Canonical Allele Identifier: CA556483787

Gene: AGA

Linked Data

• dbSNP Id: rs1343913270
• gnomAD v2: 4-178358532-AT-A
• gnomAD v4: 4-177437378-AT-A
• MyVariant Identifiers: chr4:g.178358533del (hg19) ; chr4:g.177437379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437379del , CM000666.2:g.177437379del	GRCh38
NC_000004.11:g.178358533del , CM000666.1:g.178358533del	GRCh37
NC_000004.10:g.178595527del	NCBI36
NG_011845.2:g.10125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+26del MANE Select	ENSP00000264595.2:n.622+26del
ENST00000264595.6:c.622+26del	ENSP00000264595.2:n.622+26del
ENST00000502310.5:c.277+26del	ENSP00000423798.1:n.277+26del
ENST00000506853.5:n.656+26del
ENST00000510635.1:c.318+26del
ENST00000510955.5:n.569del
NM_000027.3:c.622+26del	NP_000018.2:n.622+26del
NM_001171988.1:c.622+26del	NP_001165459.1:n.622+26del
NR_033655.1:n.750+26del
XM_006714123.2:c.622+26del	XP_006714186.1:n.622+26del
XR_001741155.2:n.716+26del
NM_000027.4:c.622+26del MANE Select	NP_000018.2:n.622+26del
NM_001171988.2:c.622+26del	NP_001165459.1:n.622+26del
NR_033655.2:n.684+26del