Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110598_11110600delinsAGG , CM000681.2:g.11110598_11110600delinsAGG	GRCh38
NC_000019.9:g.11221274_11221276delinsAGG , CM000681.1:g.11221274_11221276delinsAGG	GRCh37
NC_000019.8:g.11082274_11082276delinsAGG	NCBI36
NG_009060.1:g.26218_26220delinsAGG , LRG_274:g.26218_26220delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1199-54_1199-52delinsAGG	ENSP00000252444.6:n.1199-54_1199-52delinsAGG
ENST00000559340.2:c.941-54_941-52delinsAGG	ENSP00000453696.2:n.941-54_941-52delinsAGG
ENST00000560467.2:c.941-916_941-914delinsAGG	ENSP00000453513.2:n.941-916_941-914delinsAGG
ENST00000558518.6:c.941-54_941-52delinsAGG MANE Select	ENSP00000454071.1:n.941-54_941-52delinsAGG
ENST00000252444.9:c.1195-54_1195-52delinsAGG
ENST00000455727.6:c.437-54_437-52delinsAGG	ENSP00000397829.2:n.437-54_437-52delinsAGG
ENST00000535915.5:c.818-54_818-52delinsAGG	ENSP00000440520.1:n.818-54_818-52delinsAGG
ENST00000545707.5:c.560-54_560-52delinsAGG	ENSP00000437639.1:n.560-54_560-52delinsAGG
ENST00000557933.5:c.941-54_941-52delinsAGG	ENSP00000453557.1:n.941-54_941-52delinsAGG
ENST00000558013.5:c.941-54_941-52delinsAGG	ENSP00000453346.1:n.941-54_941-52delinsAGG
ENST00000558518.5:c.941-54_941-52delinsAGG	ENSP00000454071.1:n.941-54_941-52delinsAGG
ENST00000560467.1:c.541-916_541-914delinsAGG
NM_000527.4:c.941-54_941-52delinsAGG , LRG_274t1:c.941-54_941-52delinsAGG	NP_000518.1:n.941-54_941-52delinsAGG
NM_001195798.1:c.941-54_941-52delinsAGG	NP_001182727.1:n.941-54_941-52delinsAGG
NM_001195799.1:c.818-54_818-52delinsAGG	NP_001182728.1:n.818-54_818-52delinsAGG
NM_001195800.1:c.437-54_437-52delinsAGG	NP_001182729.1:n.437-54_437-52delinsAGG
NM_001195803.1:c.560-54_560-52delinsAGG	NP_001182732.1:n.560-54_560-52delinsAGG
XM_011528010.1:c.941-54_941-52delinsAGG	XP_011526312.1:n.941-54_941-52delinsAGG
XM_011528011.1:c.560-54_560-52delinsAGG	XP_011526313.1:n.560-54_560-52delinsAGG
XR_244074.2:n.1091-54_1091-52delinsAGG
XM_011528010.2:c.941-54_941-52delinsAGG	XP_011526312.1:n.941-54_941-52delinsAGG
XR_001753685.2:n.1058-54_1058-52delinsAGG
XR_001753686.2:n.1058-54_1058-52delinsAGG
NM_000527.5:c.941-54_941-52delinsAGG MANE Select	NP_000518.1:n.941-54_941-52delinsAGG
NM_001195798.2:c.941-54_941-52delinsAGG	NP_001182727.1:n.941-54_941-52delinsAGG
NM_001195799.2:c.818-54_818-52delinsAGG	NP_001182728.1:n.818-54_818-52delinsAGG
NM_001195800.2:c.437-54_437-52delinsAGG	NP_001182729.1:n.437-54_437-52delinsAGG
NM_001195803.2:c.560-54_560-52delinsAGG	NP_001182732.1:n.560-54_560-52delinsAGG