Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44144941_44144942delinsGC , CM000669.2:g.44144941_44144942delinsGC	GRCh38
NC_000007.13:g.44184540_44184541delinsGC , CM000669.1:g.44184540_44184541delinsGC	GRCh37
NC_000007.12:g.44151065_44151066delinsGC	NCBI36
NG_008847.1:g.49482_49483delinsGC
NG_008847.2:g.58229_58230delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1590_1591delinsGC	ENSP00000379142.4:n.1590_1591delinsGC
ENST00000616242.5:c.712_713delinsGC	ENSP00000482149.2:n.712_713delinsGC
ENST00000683378.1:n.818_819delinsGC
ENST00000336642.9:c.194_195delinsGC	ENSP00000338009.5:n.194_195delinsGC
ENST00000345378.7:c.194_195delinsGC	ENSP00000223366.2:n.194_195delinsGC
ENST00000403799.8:c.194_195delinsGC MANE Select	ENSP00000384247.3:n.194_195delinsGC
ENST00000671824.1:c.194_195delinsGC	ENSP00000500264.1:n.194_195delinsGC
ENST00000672743.1:n.381+223_381+224delinsGC
ENST00000673284.1:c.1369+223_1369+224delinsGC	ENSP00000499852.1:n.1369+223_1369+224delinsGC
ENST00000336642.8:c.644_645delinsGC	ENSP00000338009.4:n.644_645delinsGC
ENST00000345378.6:c.194_195delinsGC	ENSP00000223366.2:n.194_195delinsGC
ENST00000395796.7:c.194_195delinsGC	ENSP00000379142.3:n.194_195delinsGC
ENST00000403799.7:c.194_195delinsGC	ENSP00000384247.3:n.194_195delinsGC
ENST00000459642.1:n.972_973delinsGC
ENST00000616242.4:c.1589_1590delinsGC	ENSP00000482149.1:n.1589_1590delinsGC
NM_000162.3:c.194_195delinsGC	NP_000153.1:n.194_195delinsGC
NM_033507.1:c.194_195delinsGC	NP_277042.1:n.194_195delinsGC
NM_033508.1:c.194_195delinsGC	NP_277043.1:n.194_195delinsGC
NM_000162.4:c.194_195delinsGC	NP_000153.1:n.194_195delinsGC
NM_001354800.1:c.1369+223_1369+224delinsGC	NP_001341729.1:n.1369+223_1369+224delinsGC
NM_001354801.1:c.194_195delinsGC	NP_001341730.1:n.194_195delinsGC
NM_001354802.1:c.229+223_229+224delinsGC	NP_001341731.1:n.229+223_229+224delinsGC
NM_001354803.1:c.194_195delinsGC	NP_001341732.1:n.194_195delinsGC
NM_033507.2:c.194_195delinsGC	NP_277042.1:n.194_195delinsGC
NM_033508.2:c.194_195delinsGC	NP_277043.1:n.194_195delinsGC
XM_024446707.1:c.194_195delinsGC	XP_024302475.1:n.194_195delinsGC
NM_000162.5:c.194_195delinsGC MANE Select	NP_000153.1:n.194_195delinsGC
NM_033507.3:c.194_195delinsGC	NP_277042.1:n.194_195delinsGC
NM_033508.3:c.194_195delinsGC	NP_277043.1:n.194_195delinsGC
NM_001354803.2:c.194_195delinsGC	NP_001341732.1:n.194_195delinsGC

HGVS	Amino-acid Change
ENST00000395796.8:c.1590_1591delinsGC	ENSP00000379142.4:n.1590_1591delinsGC
ENST00000616242.5:c.712_713delinsGC	ENSP00000482149.2:n.712_713delinsGC
ENST00000683378.1:n.818_819delinsGC
ENST00000336642.9:c.194_195delinsGC	ENSP00000338009.5:n.194_195delinsGC
ENST00000345378.7:c.194_195delinsGC	ENSP00000223366.2:n.194_195delinsGC
ENST00000403799.8:c.194_195delinsGC MANE Select	ENSP00000384247.3:n.194_195delinsGC
ENST00000671824.1:c.194_195delinsGC	ENSP00000500264.1:n.194_195delinsGC
ENST00000672743.1:n.381+223_381+224delinsGC
ENST00000673284.1:c.1369+223_1369+224delinsGC	ENSP00000499852.1:n.1369+223_1369+224delinsGC
ENST00000336642.8:c.644_645delinsGC	ENSP00000338009.4:n.644_645delinsGC
ENST00000345378.6:c.194_195delinsGC	ENSP00000223366.2:n.194_195delinsGC
ENST00000395796.7:c.194_195delinsGC	ENSP00000379142.3:n.194_195delinsGC
ENST00000403799.7:c.194_195delinsGC	ENSP00000384247.3:n.194_195delinsGC
ENST00000459642.1:n.972_973delinsGC
ENST00000616242.4:c.1589_1590delinsGC	ENSP00000482149.1:n.1589_1590delinsGC
NM_000162.3:c.194_195delinsGC	NP_000153.1:n.194_195delinsGC
NM_033507.1:c.194_195delinsGC	NP_277042.1:n.194_195delinsGC
NM_033508.1:c.194_195delinsGC	NP_277043.1:n.194_195delinsGC
NM_000162.4:c.194_195delinsGC	NP_000153.1:n.194_195delinsGC
NM_001354800.1:c.1369+223_1369+224delinsGC	NP_001341729.1:n.1369+223_1369+224delinsGC
NM_001354801.1:c.194_195delinsGC	NP_001341730.1:n.194_195delinsGC
NM_001354802.1:c.229+223_229+224delinsGC	NP_001341731.1:n.229+223_229+224delinsGC
NM_001354803.1:c.194_195delinsGC	NP_001341732.1:n.194_195delinsGC
NM_033507.2:c.194_195delinsGC	NP_277042.1:n.194_195delinsGC
NM_033508.2:c.194_195delinsGC	NP_277043.1:n.194_195delinsGC
XM_024446707.1:c.194_195delinsGC	XP_024302475.1:n.194_195delinsGC
NM_000162.5:c.194_195delinsGC MANE Select	NP_000153.1:n.194_195delinsGC
NM_033507.3:c.194_195delinsGC	NP_277042.1:n.194_195delinsGC
NM_033508.3:c.194_195delinsGC	NP_277043.1:n.194_195delinsGC
NM_001354803.2:c.194_195delinsGC	NP_001341732.1:n.194_195delinsGC