Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762724_236762725delinsGA , CM000663.2:g.236762724_236762725delinsGA	GRCh38
NC_000001.10:g.236926024_236926025delinsGA , CM000663.1:g.236926024_236926025delinsGA	GRCh37
NC_000001.9:g.234992647_234992648delinsGA	NCBI36
NG_009081.1:g.81255_81256delinsGA
NG_009081.2:g.103584_103585delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.105_106delinsGA	ENSP00000443495.1:n.105_106delinsGA
ENST00000461367.2:n.1086_1087delinsGA
ENST00000492634.7:n.2720_2721delinsGA
ENST00000682015.1:c.105_106delinsGA	ENSP00000506961.1:n.105_106delinsGA
ENST00000682490.1:n.708_709delinsGA
ENST00000682692.1:n.3885_3886delinsGA
ENST00000682966.1:n.8431_8432delinsGA
ENST00000683111.1:c.2076_2077delinsGA	ENSP00000507913.1:n.2076_2077delinsGA
ENST00000683322.1:n.4142_4143delinsGA
ENST00000683805.1:n.1581_1582delinsGA
ENST00000684050.1:n.5428_5429delinsGA
ENST00000684122.1:n.2224_2225delinsGA
ENST00000684286.1:n.4345_4346delinsGA
ENST00000684502.1:n.4087_4088delinsGA
ENST00000684763.1:n.1405_1406delinsGA
ENST00000366578.6:c.105_106delinsGA MANE Select	ENSP00000355537.4:n.105_106delinsGA
ENST00000492634.6:n.2720_2721delinsGA
ENST00000542672.6:c.105_106delinsGA	ENSP00000443495.1:n.105_106delinsGA
ENST00000651275.1:c.2682_2683delinsGA	ENSP00000498926.1:n.2682_2683delinsGA
ENST00000651781.1:c.1870_1871delinsGA
ENST00000652096.1:c.2195_2196delinsGA	ENSP00000498896.1:n.2195_2196delinsGA
ENST00000366578.5:c.105_106delinsGA	ENSP00000355537.4:n.105_106delinsGA
ENST00000542672.5:c.105_106delinsGA	ENSP00000443495.1:n.105_106delinsGA
ENST00000546208.5:c.105_106delinsGA	ENSP00000438384.2:n.105_106delinsGA
NM_001103.3:c.105_106delinsGA	NP_001094.1:n.105_106delinsGA
NM_001278343.1:c.105_106delinsGA	NP_001265272.1:n.105_106delinsGA
NM_001278344.1:c.105_106delinsGA	NP_001265273.1:n.105_106delinsGA
NM_001278343.2:c.105_106delinsGA	NP_001265272.1:n.105_106delinsGA
NM_001103.4:c.105_106delinsGA MANE Select	NP_001094.1:n.105_106delinsGA
NM_001278344.2:c.105_106delinsGA	NP_001265273.1:n.105_106delinsGA

HGVS	Amino-acid Change
ENST00000542672.7:c.105_106delinsGA	ENSP00000443495.1:n.105_106delinsGA
ENST00000461367.2:n.1086_1087delinsGA
ENST00000492634.7:n.2720_2721delinsGA
ENST00000682015.1:c.105_106delinsGA	ENSP00000506961.1:n.105_106delinsGA
ENST00000682490.1:n.708_709delinsGA
ENST00000682692.1:n.3885_3886delinsGA
ENST00000682966.1:n.8431_8432delinsGA
ENST00000683111.1:c.2076_2077delinsGA	ENSP00000507913.1:n.2076_2077delinsGA
ENST00000683322.1:n.4142_4143delinsGA
ENST00000683805.1:n.1581_1582delinsGA
ENST00000684050.1:n.5428_5429delinsGA
ENST00000684122.1:n.2224_2225delinsGA
ENST00000684286.1:n.4345_4346delinsGA
ENST00000684502.1:n.4087_4088delinsGA
ENST00000684763.1:n.1405_1406delinsGA
ENST00000366578.6:c.105_106delinsGA MANE Select	ENSP00000355537.4:n.105_106delinsGA
ENST00000492634.6:n.2720_2721delinsGA
ENST00000542672.6:c.105_106delinsGA	ENSP00000443495.1:n.105_106delinsGA
ENST00000651275.1:c.2682_2683delinsGA	ENSP00000498926.1:n.2682_2683delinsGA
ENST00000651781.1:c.1870_1871delinsGA
ENST00000652096.1:c.2195_2196delinsGA	ENSP00000498896.1:n.2195_2196delinsGA
ENST00000366578.5:c.105_106delinsGA	ENSP00000355537.4:n.105_106delinsGA
ENST00000542672.5:c.105_106delinsGA	ENSP00000443495.1:n.105_106delinsGA
ENST00000546208.5:c.105_106delinsGA	ENSP00000438384.2:n.105_106delinsGA
NM_001103.3:c.105_106delinsGA	NP_001094.1:n.105_106delinsGA
NM_001278343.1:c.105_106delinsGA	NP_001265272.1:n.105_106delinsGA
NM_001278344.1:c.105_106delinsGA	NP_001265273.1:n.105_106delinsGA
NM_001278343.2:c.105_106delinsGA	NP_001265272.1:n.105_106delinsGA
NM_001103.4:c.105_106delinsGA MANE Select	NP_001094.1:n.105_106delinsGA
NM_001278344.2:c.105_106delinsGA	NP_001265273.1:n.105_106delinsGA