Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44151082_44151083delinsGA , CM000669.2:g.44151082_44151083delinsGA	GRCh38
NC_000007.13:g.44190681_44190682delinsGA , CM000669.1:g.44190681_44190682delinsGA	GRCh37
NC_000007.12:g.44157206_44157207delinsGA	NCBI36
NG_008847.1:g.43341_43342delinsTC
NG_008847.2:g.52088_52089delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.362-8_362-7delinsTC	ENSP00000379142.4:n.362-8_362-7delinsTC
ENST00000616242.5:c.364-8_364-7delinsTC	ENSP00000482149.2:n.364-8_364-7delinsTC
ENST00000682635.1:n.850-8_850-7delinsTC
ENST00000345378.7:c.367-8_367-7delinsTC	ENSP00000223366.2:n.367-8_367-7delinsTC
ENST00000403799.8:c.364-8_364-7delinsTC MANE Select	ENSP00000384247.3:n.364-8_364-7delinsTC
ENST00000671824.1:c.364-8_364-7delinsTC	ENSP00000500264.1:n.364-8_364-7delinsTC
ENST00000673284.1:c.364-8_364-7delinsTC	ENSP00000499852.1:n.364-8_364-7delinsTC
ENST00000345378.6:c.367-8_367-7delinsTC	ENSP00000223366.2:n.367-8_367-7delinsTC
ENST00000395796.7:c.361-8_361-7delinsTC	ENSP00000379142.3:n.361-8_361-7delinsTC
ENST00000403799.7:c.364-8_364-7delinsTC	ENSP00000384247.3:n.364-8_364-7delinsTC
ENST00000437084.1:c.364-59_364-58delinsTC	ENSP00000402840.1:n.364-59_364-58delinsTC
ENST00000616242.4:c.361-8_361-7delinsTC	ENSP00000482149.1:n.361-8_361-7delinsTC
NM_000162.3:c.364-8_364-7delinsTC	NP_000153.1:n.364-8_364-7delinsTC
NM_033507.1:c.367-8_367-7delinsTC	NP_277042.1:n.367-8_367-7delinsTC
NM_033508.1:c.361-8_361-7delinsTC	NP_277043.1:n.361-8_361-7delinsTC
NM_000162.4:c.364-8_364-7delinsTC	NP_000153.1:n.364-8_364-7delinsTC
NM_001354800.1:c.364-8_364-7delinsTC	NP_001341729.1:n.364-8_364-7delinsTC
NM_033507.2:c.367-8_367-7delinsTC	NP_277042.1:n.367-8_367-7delinsTC
NM_033508.2:c.361-8_361-7delinsTC	NP_277043.1:n.361-8_361-7delinsTC
NM_000162.5:c.364-8_364-7delinsTC MANE Select	NP_000153.1:n.364-8_364-7delinsTC
NM_033507.3:c.367-8_367-7delinsTC	NP_277042.1:n.367-8_367-7delinsTC
NM_033508.3:c.361-8_361-7delinsTC	NP_277043.1:n.361-8_361-7delinsTC