Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145596_44145615delinsGTTGATGAG , CM000669.2:g.44145596_44145615delinsGTTGATGAG	GRCh38
NC_000007.13:g.44185195_44185214delinsGTTGATGAG , CM000669.1:g.44185195_44185214delinsGTTGATGAG	GRCh37
NC_000007.12:g.44151720_44151739delinsGTTGATGAG	NCBI36
NG_008847.1:g.48809_48828delinsCTCATCAAC
NG_008847.2:g.57556_57575delinsCTCATCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1133_1152delinsCTCATCAAC	ENSP00000379142.4:n.1133_1152delinsCTCATCAAC
ENST00000616242.5:c.255_274delinsCTCATCAAC	ENSP00000482149.2:n.255_274delinsCTCATCAAC
ENST00000683378.1:n.361_380delinsCTCATCAAC
ENST00000336642.9:c.169_188delinsCTCATCAAC	ENSP00000338009.5:p.Ala57LeufsTer?
ENST00000345378.7:c.1138_1157delinsCTCATCAAC	ENSP00000223366.2:p.Ala380LeufsTer?
ENST00000403799.8:c.1135_1154delinsCTCATCAAC MANE Select	ENSP00000384247.3:p.Ala379LeufsTer?
ENST00000671824.1:c.1198_1217delinsCTCATCAAC	ENSP00000500264.1:p.Ala400LeufsTer?
ENST00000672743.1:n.147_166delinsCTCATCAAC
ENST00000673284.1:c.1135_1154delinsCTCATCAAC	ENSP00000499852.1:p.Ala379LeufsTer?
ENST00000336642.8:c.187_206delinsCTCATCAAC	ENSP00000338009.4:p.Ala63LeufsTer?
ENST00000345378.6:c.1138_1157delinsCTCATCAAC	ENSP00000223366.2:p.Ala380LeufsTer?
ENST00000395796.7:c.1132_1151delinsCTCATCAAC	ENSP00000379142.3:p.Ala378LeufsTer?
ENST00000403799.7:c.1135_1154delinsCTCATCAAC	ENSP00000384247.3:p.Ala379LeufsTer?
ENST00000437084.1:c.1084_1103delinsCTCATCAAC	ENSP00000402840.1:p.Ala362LeufsTer?
ENST00000459642.1:n.515_534delinsCTCATCAAC
ENST00000616242.4:c.1132_1151delinsCTCATCAAC	ENSP00000482149.1:p.Ala378LeufsTer?
NM_000162.3:c.1135_1154delinsCTCATCAAC	NP_000153.1:p.Ala379LeufsTer?
NM_033507.1:c.1138_1157delinsCTCATCAAC	NP_277042.1:p.Ala380LeufsTer?
NM_033508.1:c.1132_1151delinsCTCATCAAC	NP_277043.1:p.Ala378LeufsTer?
NM_000162.4:c.1135_1154delinsCTCATCAAC	NP_000153.1:p.Ala379LeufsTer?
NM_001354800.1:c.1135_1154delinsCTCATCAAC	NP_001341729.1:p.Ala379LeufsTer?
NM_001354801.1:c.124_143delinsCTCATCAAC	NP_001341730.1:p.Ala42LeufsTer?
NM_001354802.1:c.-6_14delinsCTCATCAAC
NM_001354803.1:c.169_188delinsCTCATCAAC	NP_001341732.1:p.Ala57LeufsTer?
NM_033507.2:c.1138_1157delinsCTCATCAAC	NP_277042.1:p.Ala380LeufsTer?
NM_033508.2:c.1132_1151delinsCTCATCAAC	NP_277043.1:p.Ala378LeufsTer?
XM_024446707.1:c.-6_14delinsCTCATCAAC
NM_000162.5:c.1135_1154delinsCTCATCAAC MANE Select	NP_000153.1:p.Ala379LeufsTer?
NM_033507.3:c.1138_1157delinsCTCATCAAC	NP_277042.1:p.Ala380LeufsTer?
NM_033508.3:c.1132_1151delinsCTCATCAAC	NP_277043.1:p.Ala378LeufsTer?
NM_001354803.2:c.169_188delinsCTCATCAAC	NP_001341732.1:p.Ala57LeufsTer?