Canonical Allele Identifier: CA2764653749

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437617_177437618insCCAAACACACCC , CM000666.2:g.177437617_177437618insCCAAACACACCC	GRCh38
NC_000004.11:g.178358771_178358772insCCAAACACACCC , CM000666.1:g.178358771_178358772insCCAAACACACCC	GRCh37
NC_000004.10:g.178595765_178595766insCCAAACACACCC	NCBI36
NG_011845.2:g.9886_9887insGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-99_508-98insGGGTGTGTTTGG MANE Select	ENSP00000264595.2:n.508-99_508-98insGGGTGTGTTTGG
ENST00000264595.6:c.508-99_508-98insGGGTGTGTTTGG	ENSP00000264595.2:n.508-99_508-98insGGGTGTGTTTGG
ENST00000502310.5:c.163-99_163-98insGGGTGTGTTTGG	ENSP00000423798.1:n.163-99_163-98insGGGTGTGTTTGG
ENST00000506853.5:n.542-99_542-98insGGGTGTGTTTGG
ENST00000510635.1:c.204-99_204-98insGGGTGTGTTTGG
ENST00000510955.5:n.429-99_429-98insGGGTGTGTTTGG
NM_000027.3:c.508-99_508-98insGGGTGTGTTTGG	NP_000018.2:n.508-99_508-98insGGGTGTGTTTGG
NM_001171988.1:c.508-99_508-98insGGGTGTGTTTGG	NP_001165459.1:n.508-99_508-98insGGGTGTGTTTGG
NR_033655.1:n.636-99_636-98insGGGTGTGTTTGG
XM_006714123.2:c.508-99_508-98insGGGTGTGTTTGG	XP_006714186.1:n.508-99_508-98insGGGTGTGTTTGG
XR_001741155.2:n.602-99_602-98insGGGTGTGTTTGG
NM_000027.4:c.508-99_508-98insGGGTGTGTTTGG MANE Select	NP_000018.2:n.508-99_508-98insGGGTGTGTTTGG
NM_001171988.2:c.508-99_508-98insGGGTGTGTTTGG	NP_001165459.1:n.508-99_508-98insGGGTGTGTTTGG
NR_033655.2:n.570-99_570-98insGGGTGTGTTTGG