Canonical Allele Identifier: CA1071329949

Gene: AGA

Linked Data

• dbSNP Id: rs1736870789
• gnomAD v3: 4-177437689-GATAA-G
• gnomAD v4: 4-177437689-GATAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437694_177437697del , CM000666.2:g.177437694_177437697del	GRCh38
NC_000004.11:g.178358848_178358851del , CM000666.1:g.178358848_178358851del	GRCh37
NC_000004.10:g.178595842_178595845del	NCBI36
NG_011845.2:g.9811_9814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-174_508-171del MANE Select	ENSP00000264595.2:n.508-174_508-171del
ENST00000264595.6:c.508-174_508-171del	ENSP00000264595.2:n.508-174_508-171del
ENST00000502310.5:c.163-174_163-171del	ENSP00000423798.1:n.163-174_163-171del
ENST00000506853.5:n.542-174_542-171del
ENST00000510635.1:c.204-174_204-171del
ENST00000510955.5:n.429-174_429-171del
NM_000027.3:c.508-174_508-171del	NP_000018.2:n.508-174_508-171del
NM_001171988.1:c.508-174_508-171del	NP_001165459.1:n.508-174_508-171del
NR_033655.1:n.636-174_636-171del
XM_006714123.2:c.508-174_508-171del	XP_006714186.1:n.508-174_508-171del
XR_001741155.2:n.602-174_602-171del
NM_000027.4:c.508-174_508-171del MANE Select	NP_000018.2:n.508-174_508-171del
NM_001171988.2:c.508-174_508-171del	NP_001165459.1:n.508-174_508-171del
NR_033655.2:n.570-174_570-171del