Canonical Allele Identifier: CA2764653752

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437650_177437651insCCAAACACACCCAACAC , CM000666.2:g.177437650_177437651insCCAAACACACCCAACAC	GRCh38
NC_000004.11:g.178358804_178358805insCCAAACACACCCAACAC , CM000666.1:g.178358804_178358805insCCAAACACACCCAACAC	GRCh37
NC_000004.10:g.178595798_178595799insCCAAACACACCCAACAC	NCBI36
NG_011845.2:g.9853_9854insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-132_508-131insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000264595.2:n.508-132_508-131insGTGTTGGGTGTGTTTGG
ENST00000264595.6:c.508-132_508-131insGTGTTGGGTGTGTTTGG	ENSP00000264595.2:n.508-132_508-131insGTGTTGGGTGTGTTTGG
ENST00000502310.5:c.163-132_163-131insGTGTTGGGTGTGTTTGG	ENSP00000423798.1:n.163-132_163-131insGTGTTGGGTGTGTTTGG
ENST00000506853.5:n.542-132_542-131insGTGTTGGGTGTGTTTGG
ENST00000510635.1:c.204-132_204-131insGTGTTGGGTGTGTTTGG
ENST00000510955.5:n.429-132_429-131insGTGTTGGGTGTGTTTGG
NM_000027.3:c.508-132_508-131insGTGTTGGGTGTGTTTGG	NP_000018.2:n.508-132_508-131insGTGTTGGGTGTGTTTGG
NM_001171988.1:c.508-132_508-131insGTGTTGGGTGTGTTTGG	NP_001165459.1:n.508-132_508-131insGTGTTGGGTGTGTTTGG
NR_033655.1:n.636-132_636-131insGTGTTGGGTGTGTTTGG
XM_006714123.2:c.508-132_508-131insGTGTTGGGTGTGTTTGG	XP_006714186.1:n.508-132_508-131insGTGTTGGGTGTGTTTGG
XR_001741155.2:n.602-132_602-131insGTGTTGGGTGTGTTTGG
NM_000027.4:c.508-132_508-131insGTGTTGGGTGTGTTTGG MANE Select	NP_000018.2:n.508-132_508-131insGTGTTGGGTGTGTTTGG
NM_001171988.2:c.508-132_508-131insGTGTTGGGTGTGTTTGG	NP_001165459.1:n.508-132_508-131insGTGTTGGGTGTGTTTGG
NR_033655.2:n.570-132_570-131insGTGTTGGGTGTGTTTGG