Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105574_11105589delinsAGGACAAATCTGACGA , CM000681.2:g.11105574_11105589delinsAGGACAAATCTGACGA	GRCh38
NC_000019.9:g.11216250_11216265delinsAGGACAAATCTGACGA , CM000681.1:g.11216250_11216265delinsAGGACAAATCTGACGA	GRCh37
NC_000019.8:g.11077250_11077265delinsAGGACAAATCTGACGA	NCBI36
NG_009060.1:g.21194_21209delinsAGGACAAATCTGACGA , LRG_274:g.21194_21209delinsAGGACAAATCTGACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.926_941delinsAGGACAAATCTGACGA	ENSP00000252444.6:p.Lys309=
ENST00000559340.2:c.668_683delinsAGGACAAATCTGACGA	ENSP00000453696.2:p.Lys223=
ENST00000560467.2:c.668_683delinsAGGACAAATCTGACGA	ENSP00000453513.2:p.Lys223=
ENST00000558518.6:c.668_683delinsAGGACAAATCTGACGA MANE Select	ENSP00000454071.1:p.Lys223=
ENST00000252444.9:c.922_937delinsAGGACAAATCTGACGA
ENST00000455727.6:c.314-1818_314-1803delinsAGGACAAATCTGACGA	ENSP00000397829.2:n.314-1818_314-1803delinsAGGACAAATCTGACGA
ENST00000535915.5:c.545_560delinsAGGACAAATCTGACGA	ENSP00000440520.1:p.Lys182=
ENST00000545707.5:c.314-991_314-976delinsAGGACAAATCTGACGA	ENSP00000437639.1:n.314-991_314-976delinsAGGACAAATCTGACGA
ENST00000557933.5:c.668_683delinsAGGACAAATCTGACGA	ENSP00000453557.1:p.Lys223=
ENST00000558013.5:c.668_683delinsAGGACAAATCTGACGA	ENSP00000453346.1:p.Lys223=
ENST00000558518.5:c.668_683delinsAGGACAAATCTGACGA	ENSP00000454071.1:p.Lys223=
ENST00000560467.1:c.268_283delinsAGGACAAATCTGACGA
NM_000527.4:c.668_683delinsAGGACAAATCTGACGA , LRG_274t1:c.668_683delinsAGGACAAATCTGACGA	NP_000518.1:p.Lys223=
NM_001195798.1:c.668_683delinsAGGACAAATCTGACGA	NP_001182727.1:p.Lys223=
NM_001195799.1:c.545_560delinsAGGACAAATCTGACGA	NP_001182728.1:p.Lys182=
NM_001195800.1:c.314-1818_314-1803delinsAGGACAAATCTGACGA	NP_001182729.1:n.314-1818_314-1803delinsAGGACAAATCTGACGA
NM_001195803.1:c.314-991_314-976delinsAGGACAAATCTGACGA	NP_001182732.1:n.314-991_314-976delinsAGGACAAATCTGACGA
XM_011528010.1:c.668_683delinsAGGACAAATCTGACGA	XP_011526312.1:p.Lys223=
XM_011528011.1:c.314-991_314-976delinsAGGACAAATCTGACGA	XP_011526313.1:n.314-991_314-976delinsAGGACAAATCTGACGA
XR_244074.2:n.818_833delinsAGGACAAATCTGACGA
XM_011528010.2:c.668_683delinsAGGACAAATCTGACGA	XP_011526312.1:p.Lys223=
XR_001753685.2:n.785_800delinsAGGACAAATCTGACGA
XR_001753686.2:n.785_800delinsAGGACAAATCTGACGA
NM_000527.5:c.668_683delinsAGGACAAATCTGACGA MANE Select	NP_000518.1:p.Lys223=
NM_001195798.2:c.668_683delinsAGGACAAATCTGACGA	NP_001182727.1:p.Lys223=
NM_001195799.2:c.545_560delinsAGGACAAATCTGACGA	NP_001182728.1:p.Lys182=
NM_001195800.2:c.314-1818_314-1803delinsAGGACAAATCTGACGA	NP_001182729.1:n.314-1818_314-1803delinsAGGACAAATCTGACGA
NM_001195803.2:c.314-991_314-976delinsAGGACAAATCTGACGA	NP_001182732.1:n.314-991_314-976delinsAGGACAAATCTGACGA