Canonical Allele Identifier: CA2672747098

Gene: AGA

Linked Data

• gnomAD v4: 4-177437309-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437311del , CM000666.2:g.177437311del	GRCh38
NC_000004.11:g.178358465del , CM000666.1:g.178358465del	GRCh37
NC_000004.10:g.178595459del	NCBI36
NG_011845.2:g.10194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+95del MANE Select	ENSP00000264595.2:n.622+95del
ENST00000264595.6:c.622+95del	ENSP00000264595.2:n.622+95del
ENST00000502310.5:c.277+95del	ENSP00000423798.1:n.277+95del
ENST00000506853.5:n.656+95del
ENST00000510635.1:c.318+95del
ENST00000510955.5:n.638del
NM_000027.3:c.622+95del	NP_000018.2:n.622+95del
NM_001171988.1:c.622+95del	NP_001165459.1:n.622+95del
NR_033655.1:n.750+95del
XM_006714123.2:c.622+95del	XP_006714186.1:n.622+95del
XR_001741155.2:n.716+95del
NM_000027.4:c.622+95del MANE Select	NP_000018.2:n.622+95del
NM_001171988.2:c.622+95del	NP_001165459.1:n.622+95del
NR_033655.2:n.684+95del