Canonical Allele Identifier: CA2672747136

Gene: AGA

Linked Data

• gnomAD v4: 4-177437397-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437400del , CM000666.2:g.177437400del	GRCh38
NC_000004.11:g.178358554del , CM000666.1:g.178358554del	GRCh37
NC_000004.10:g.178595548del	NCBI36
NG_011845.2:g.10106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+7del MANE Select	ENSP00000264595.2:n.622+7del
ENST00000264595.6:c.622+7del	ENSP00000264595.2:n.622+7del
ENST00000502310.5:c.277+7del	ENSP00000423798.1:n.277+7del
ENST00000506853.5:n.656+7del
ENST00000510635.1:c.318+7del
ENST00000510955.5:n.550del
NM_000027.3:c.622+7del	NP_000018.2:n.622+7del
NM_001171988.1:c.622+7del	NP_001165459.1:n.622+7del
NR_033655.1:n.750+7del
XM_006714123.2:c.622+7del	XP_006714186.1:n.622+7del
XR_001741155.2:n.716+7del
NM_000027.4:c.622+7del MANE Select	NP_000018.2:n.622+7del
NM_001171988.2:c.622+7del	NP_001165459.1:n.622+7del
NR_033655.2:n.684+7del