Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110676_11110677delinsAC , CM000681.2:g.11110676_11110677delinsAC	GRCh38
NC_000019.9:g.11221352_11221353delinsAC , CM000681.1:g.11221352_11221353delinsAC	GRCh37
NC_000019.8:g.11082352_11082353delinsAC	NCBI36
NG_009060.1:g.26296_26297delinsAC , LRG_274:g.26296_26297delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1223_1224delinsAC	ENSP00000252444.6:p.Asn408=
ENST00000559340.2:c.965_966delinsAC	ENSP00000453696.2:p.Asn322=
ENST00000560467.2:c.941-838_941-837delinsAC	ENSP00000453513.2:n.941-838_941-837delinsAC
ENST00000558518.6:c.965_966delinsAC MANE Select	ENSP00000454071.1:p.Asn322=
ENST00000252444.9:c.1219_1220delinsAC
ENST00000455727.6:c.461_462delinsAC	ENSP00000397829.2:p.Asn154=
ENST00000535915.5:c.842_843delinsAC	ENSP00000440520.1:p.Asn281=
ENST00000545707.5:c.584_585delinsAC	ENSP00000437639.1:p.Asn195=
ENST00000557933.5:c.965_966delinsAC	ENSP00000453557.1:p.Asn322=
ENST00000558013.5:c.965_966delinsAC	ENSP00000453346.1:p.Asn322=
ENST00000558518.5:c.965_966delinsAC	ENSP00000454071.1:p.Asn322=
ENST00000560467.1:c.541-838_541-837delinsAC
NM_000527.4:c.965_966delinsAC , LRG_274t1:c.965_966delinsAC	NP_000518.1:p.Asn322=
NM_001195798.1:c.965_966delinsAC	NP_001182727.1:p.Asn322=
NM_001195799.1:c.842_843delinsAC	NP_001182728.1:p.Asn281=
NM_001195800.1:c.461_462delinsAC	NP_001182729.1:p.Asn154=
NM_001195803.1:c.584_585delinsAC	NP_001182732.1:p.Asn195=
XM_011528010.1:c.965_966delinsAC	XP_011526312.1:p.Asn322=
XM_011528011.1:c.584_585delinsAC	XP_011526313.1:p.Asn195=
XR_244074.2:n.1115_1116delinsAC
XM_011528010.2:c.965_966delinsAC	XP_011526312.1:p.Asn322=
XR_001753685.2:n.1082_1083delinsAC
XR_001753686.2:n.1082_1083delinsAC
NM_000527.5:c.965_966delinsAC MANE Select	NP_000518.1:p.Asn322=
NM_001195798.2:c.965_966delinsAC	NP_001182727.1:p.Asn322=
NM_001195799.2:c.842_843delinsAC	NP_001182728.1:p.Asn281=
NM_001195800.2:c.461_462delinsAC	NP_001182729.1:p.Asn154=
NM_001195803.2:c.584_585delinsAC	NP_001182732.1:p.Asn195=