Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145043_44145048delinsCGCCAG , CM000669.2:g.44145043_44145048delinsCGCCAG	GRCh38
NC_000007.13:g.44184642_44184647delinsCGCCAG , CM000669.1:g.44184642_44184647delinsCGCCAG	GRCh37
NC_000007.12:g.44151167_44151172delinsCGCCAG	NCBI36
NG_008847.1:g.49376_49381delinsCTGGCG
NG_008847.2:g.58123_58128delinsCTGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1484_1489delinsCTGGCG	ENSP00000379142.4:n.1484_1489delinsCTGGCG
ENST00000616242.5:c.606_611delinsCTGGCG	ENSP00000482149.2:n.606_611delinsCTGGCG
ENST00000683378.1:n.712_717delinsCTGGCG
ENST00000336642.9:c.88_93delinsCTGGCG	ENSP00000338009.5:n.88_93delinsCTGGCG
ENST00000345378.7:c.88_93delinsCTGGCG	ENSP00000223366.2:n.88_93delinsCTGGCG
ENST00000403799.8:c.88_93delinsCTGGCG MANE Select	ENSP00000384247.3:n.88_93delinsCTGGCG
ENST00000671824.1:c.88_93delinsCTGGCG	ENSP00000500264.1:n.88_93delinsCTGGCG
ENST00000672743.1:n.381+117_381+122delinsCTGGCG
ENST00000673284.1:c.1369+117_1369+122delinsCTGGCG	ENSP00000499852.1:n.1369+117_1369+122delinsCTGGCG
ENST00000336642.8:c.538_543delinsCTGGCG	ENSP00000338009.4:n.538_543delinsCTGGCG
ENST00000345378.6:c.88_93delinsCTGGCG	ENSP00000223366.2:n.88_93delinsCTGGCG
ENST00000395796.7:c.88_93delinsCTGGCG	ENSP00000379142.3:n.88_93delinsCTGGCG
ENST00000403799.7:c.88_93delinsCTGGCG	ENSP00000384247.3:n.88_93delinsCTGGCG
ENST00000459642.1:n.866_871delinsCTGGCG
ENST00000616242.4:c.1483_1488delinsCTGGCG	ENSP00000482149.1:n.1483_1488delinsCTGGCG
NM_000162.3:c.88_93delinsCTGGCG	NP_000153.1:n.88_93delinsCTGGCG
NM_033507.1:c.88_93delinsCTGGCG	NP_277042.1:n.88_93delinsCTGGCG
NM_033508.1:c.88_93delinsCTGGCG	NP_277043.1:n.88_93delinsCTGGCG
NM_000162.4:c.88_93delinsCTGGCG	NP_000153.1:n.88_93delinsCTGGCG
NM_001354800.1:c.1369+117_1369+122delinsCTGGCG	NP_001341729.1:n.1369+117_1369+122delinsCTGGCG
NM_001354801.1:c.88_93delinsCTGGCG	NP_001341730.1:n.88_93delinsCTGGCG
NM_001354802.1:c.229+117_229+122delinsCTGGCG	NP_001341731.1:n.229+117_229+122delinsCTGGCG
NM_001354803.1:c.88_93delinsCTGGCG	NP_001341732.1:n.88_93delinsCTGGCG
NM_033507.2:c.88_93delinsCTGGCG	NP_277042.1:n.88_93delinsCTGGCG
NM_033508.2:c.88_93delinsCTGGCG	NP_277043.1:n.88_93delinsCTGGCG
XM_024446707.1:c.88_93delinsCTGGCG	XP_024302475.1:n.88_93delinsCTGGCG
NM_000162.5:c.88_93delinsCTGGCG MANE Select	NP_000153.1:n.88_93delinsCTGGCG
NM_033507.3:c.88_93delinsCTGGCG	NP_277042.1:n.88_93delinsCTGGCG
NM_033508.3:c.88_93delinsCTGGCG	NP_277043.1:n.88_93delinsCTGGCG
NM_001354803.2:c.88_93delinsCTGGCG	NP_001341732.1:n.88_93delinsCTGGCG

HGVS	Amino-acid Change
ENST00000395796.8:c.1484_1489delinsCTGGCG	ENSP00000379142.4:n.1484_1489delinsCTGGCG
ENST00000616242.5:c.606_611delinsCTGGCG	ENSP00000482149.2:n.606_611delinsCTGGCG
ENST00000683378.1:n.712_717delinsCTGGCG
ENST00000336642.9:c.88_93delinsCTGGCG	ENSP00000338009.5:n.88_93delinsCTGGCG
ENST00000345378.7:c.88_93delinsCTGGCG	ENSP00000223366.2:n.88_93delinsCTGGCG
ENST00000403799.8:c.88_93delinsCTGGCG MANE Select	ENSP00000384247.3:n.88_93delinsCTGGCG
ENST00000671824.1:c.88_93delinsCTGGCG	ENSP00000500264.1:n.88_93delinsCTGGCG
ENST00000672743.1:n.381+117_381+122delinsCTGGCG
ENST00000673284.1:c.1369+117_1369+122delinsCTGGCG	ENSP00000499852.1:n.1369+117_1369+122delinsCTGGCG
ENST00000336642.8:c.538_543delinsCTGGCG	ENSP00000338009.4:n.538_543delinsCTGGCG
ENST00000345378.6:c.88_93delinsCTGGCG	ENSP00000223366.2:n.88_93delinsCTGGCG
ENST00000395796.7:c.88_93delinsCTGGCG	ENSP00000379142.3:n.88_93delinsCTGGCG
ENST00000403799.7:c.88_93delinsCTGGCG	ENSP00000384247.3:n.88_93delinsCTGGCG
ENST00000459642.1:n.866_871delinsCTGGCG
ENST00000616242.4:c.1483_1488delinsCTGGCG	ENSP00000482149.1:n.1483_1488delinsCTGGCG
NM_000162.3:c.88_93delinsCTGGCG	NP_000153.1:n.88_93delinsCTGGCG
NM_033507.1:c.88_93delinsCTGGCG	NP_277042.1:n.88_93delinsCTGGCG
NM_033508.1:c.88_93delinsCTGGCG	NP_277043.1:n.88_93delinsCTGGCG
NM_000162.4:c.88_93delinsCTGGCG	NP_000153.1:n.88_93delinsCTGGCG
NM_001354800.1:c.1369+117_1369+122delinsCTGGCG	NP_001341729.1:n.1369+117_1369+122delinsCTGGCG
NM_001354801.1:c.88_93delinsCTGGCG	NP_001341730.1:n.88_93delinsCTGGCG
NM_001354802.1:c.229+117_229+122delinsCTGGCG	NP_001341731.1:n.229+117_229+122delinsCTGGCG
NM_001354803.1:c.88_93delinsCTGGCG	NP_001341732.1:n.88_93delinsCTGGCG
NM_033507.2:c.88_93delinsCTGGCG	NP_277042.1:n.88_93delinsCTGGCG
NM_033508.2:c.88_93delinsCTGGCG	NP_277043.1:n.88_93delinsCTGGCG
XM_024446707.1:c.88_93delinsCTGGCG	XP_024302475.1:n.88_93delinsCTGGCG
NM_000162.5:c.88_93delinsCTGGCG MANE Select	NP_000153.1:n.88_93delinsCTGGCG
NM_033507.3:c.88_93delinsCTGGCG	NP_277042.1:n.88_93delinsCTGGCG
NM_033508.3:c.88_93delinsCTGGCG	NP_277043.1:n.88_93delinsCTGGCG
NM_001354803.2:c.88_93delinsCTGGCG	NP_001341732.1:n.88_93delinsCTGGCG