Canonical Allele Identifier: CA791500355

Gene: AGA

Linked Data

• dbSNP Id: rs1482273699
• gnomAD v4: 4-177437647-TA-T
• MyVariant Identifiers: chr4:g.178358802del (hg19) ; chr4:g.177437648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437651del , CM000666.2:g.177437651del	GRCh38
NC_000004.11:g.178358805del , CM000666.1:g.178358805del	GRCh37
NC_000004.10:g.178595799del	NCBI36
NG_011845.2:g.9856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-129del MANE Select	ENSP00000264595.2:n.508-129del
ENST00000264595.6:c.508-129del	ENSP00000264595.2:n.508-129del
ENST00000502310.5:c.163-129del	ENSP00000423798.1:n.163-129del
ENST00000506853.5:n.542-129del
ENST00000510635.1:c.204-129del
ENST00000510955.5:n.429-129del
NM_000027.3:c.508-129del	NP_000018.2:n.508-129del
NM_001171988.1:c.508-129del	NP_001165459.1:n.508-129del
NR_033655.1:n.636-129del
XM_006714123.2:c.508-129del	XP_006714186.1:n.508-129del
XR_001741155.2:n.602-129del
NM_000027.4:c.508-129del MANE Select	NP_000018.2:n.508-129del
NM_001171988.2:c.508-129del	NP_001165459.1:n.508-129del
NR_033655.2:n.570-129del