Canonical Allele Identifier: CA1515641724

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437362_177437367delinsTAACTA , CM000666.2:g.177437362_177437367delinsTAACTA	GRCh38
NC_000004.11:g.178358516_178358521delinsTAACTA , CM000666.1:g.178358516_178358521delinsTAACTA	GRCh37
NC_000004.10:g.178595510_178595515delinsTAACTA	NCBI36
NG_011845.2:g.10137_10142delinsTAGTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.622+38_622+43delinsTAGTTA MANE Select	ENSP00000264595.2:n.622+38_622+43delinsTAGTTA
ENST00000264595.6:c.622+38_622+43delinsTAGTTA	ENSP00000264595.2:n.622+38_622+43delinsTAGTTA
ENST00000502310.5:c.277+38_277+43delinsTAGTTA	ENSP00000423798.1:n.277+38_277+43delinsTAGTTA
ENST00000506853.5:n.656+38_656+43delinsTAGTTA
ENST00000510635.1:c.318+38_318+43delinsTAGTTA
ENST00000510955.5:n.581_586delinsTAGTTA
NM_000027.3:c.622+38_622+43delinsTAGTTA	NP_000018.2:n.622+38_622+43delinsTAGTTA
NM_001171988.1:c.622+38_622+43delinsTAGTTA	NP_001165459.1:n.622+38_622+43delinsTAGTTA
NR_033655.1:n.750+38_750+43delinsTAGTTA
XM_006714123.2:c.622+38_622+43delinsTAGTTA	XP_006714186.1:n.622+38_622+43delinsTAGTTA
XR_001741155.2:n.716+38_716+43delinsTAGTTA
NM_000027.4:c.622+38_622+43delinsTAGTTA MANE Select	NP_000018.2:n.622+38_622+43delinsTAGTTA
NM_001171988.2:c.622+38_622+43delinsTAGTTA	NP_001165459.1:n.622+38_622+43delinsTAGTTA
NR_033655.2:n.684+38_684+43delinsTAGTTA