Canonical Allele Identifier: CA1515642157

Gene: AGA

Linked Data

• dbSNP Id: rs1736868763
• gnomAD v4: 4-177437635-AAAGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437640_177437644del , CM000666.2:g.177437640_177437644del	GRCh38
NC_000004.11:g.178358794_178358798del , CM000666.1:g.178358794_178358798del	GRCh37
NC_000004.10:g.178595788_178595792del	NCBI36
NG_011845.2:g.9864_9868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-121_508-117del MANE Select	ENSP00000264595.2:n.508-121_508-117del
ENST00000264595.6:c.508-121_508-117del	ENSP00000264595.2:n.508-121_508-117del
ENST00000502310.5:c.163-121_163-117del	ENSP00000423798.1:n.163-121_163-117del
ENST00000506853.5:n.542-121_542-117del
ENST00000510635.1:c.204-121_204-117del
ENST00000510955.5:n.429-121_429-117del
NM_000027.3:c.508-121_508-117del	NP_000018.2:n.508-121_508-117del
NM_001171988.1:c.508-121_508-117del	NP_001165459.1:n.508-121_508-117del
NR_033655.1:n.636-121_636-117del
XM_006714123.2:c.508-121_508-117del	XP_006714186.1:n.508-121_508-117del
XR_001741155.2:n.602-121_602-117del
NM_000027.4:c.508-121_508-117del MANE Select	NP_000018.2:n.508-121_508-117del
NM_001171988.2:c.508-121_508-117del	NP_001165459.1:n.508-121_508-117del
NR_033655.2:n.570-121_570-117del