Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129573_11129582delinsACATCAACAG , CM000681.2:g.11129573_11129582delinsACATCAACAG	GRCh38
NC_000019.9:g.11240249_11240258delinsACATCAACAG , CM000681.1:g.11240249_11240258delinsACATCAACAG	GRCh37
NC_000019.8:g.11101249_11101258delinsACATCAACAG	NCBI36
NG_009060.1:g.45193_45202delinsACATCAACAG , LRG_274:g.45193_45202delinsACATCAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2708_2717delinsACATCAACAG	ENSP00000252444.6:p.Asn903=
ENST00000559340.2:c.519_528delinsACATCAACAG	ENSP00000453696.2:n.519_528delinsACATCAACAG
ENST00000560467.2:c.2330_2339delinsACATCAACAG	ENSP00000453513.2:p.Asn777=
ENST00000558518.6:c.2450_2459delinsACATCAACAG MANE Select	ENSP00000454071.1:p.Asn817=
ENST00000252444.9:c.2704_2713delinsACATCAACAG
ENST00000455727.6:c.1946_1955delinsACATCAACAG	ENSP00000397829.2:p.Asn649=
ENST00000535915.5:c.2327_2336delinsACATCAACAG	ENSP00000440520.1:p.Asn776=
ENST00000545707.5:c.1916_1925delinsACATCAACAG	ENSP00000437639.1:p.Asn639=
ENST00000557933.5:c.2512_2521delinsACATCAACAG	ENSP00000453557.1:p.Thr838=
ENST00000558013.5:c.2450_2459delinsACATCAACAG	ENSP00000453346.1:p.Asn817=
ENST00000558518.5:c.2450_2459delinsACATCAACAG	ENSP00000454071.1:p.Asn817=
ENST00000560628.1:n.108+1919_108+1928delinsACATCAACAG
NM_000527.4:c.2450_2459delinsACATCAACAG , LRG_274t1:c.2450_2459delinsACATCAACAG	NP_000518.1:p.Asn817=
NM_001195798.1:c.2450_2459delinsACATCAACAG	NP_001182727.1:p.Asn817=
NM_001195799.1:c.2327_2336delinsACATCAACAG	NP_001182728.1:p.Asn776=
NM_001195800.1:c.1946_1955delinsACATCAACAG	NP_001182729.1:p.Asn649=
NM_001195803.1:c.1916_1925delinsACATCAACAG	NP_001182732.1:p.Asn639=
XM_011528010.1:c.2372_2381delinsACATCAACAG	XP_011526312.1:p.Asn791=
XM_011528011.1:c.2069_2078delinsACATCAACAG	XP_011526313.1:p.Asn690=
XM_011528010.2:c.2372_2381delinsACATCAACAG	XP_011526312.1:p.Asn791=
XR_001753685.2:n.2784_2793delinsACATCAACAG
XR_001753686.2:n.2427_2436delinsACATCAACAG
NM_000527.5:c.2450_2459delinsACATCAACAG MANE Select	NP_000518.1:p.Asn817=
NM_001195798.2:c.2450_2459delinsACATCAACAG	NP_001182727.1:p.Asn817=
NM_001195799.2:c.2327_2336delinsACATCAACAG	NP_001182728.1:p.Asn776=
NM_001195800.2:c.1946_1955delinsACATCAACAG	NP_001182729.1:p.Asn649=
NM_001195803.2:c.1916_1925delinsACATCAACAG	NP_001182732.1:p.Asn639=