Canonical Allele Identifier: CA2672747455

Gene: AGA

Linked Data

• gnomAD v4: 4-177438715-CTTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438718_177438721del , CM000666.2:g.177438718_177438721del	GRCh38
NC_000004.11:g.178359872_178359875del , CM000666.1:g.178359872_178359875del	GRCh37
NC_000004.10:g.178596866_178596869del	NCBI36
NG_011845.2:g.8785_8788del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.507+26_507+29del MANE Select	ENSP00000264595.2:n.507+26_507+29del
ENST00000264595.6:c.507+26_507+29del	ENSP00000264595.2:n.507+26_507+29del
ENST00000502310.5:c.162+26_162+29del	ENSP00000423798.1:n.162+26_162+29del
ENST00000506853.5:n.541+26_541+29del
ENST00000510635.1:c.203+26_203+29del
ENST00000510955.5:n.428+26_428+29del
NM_000027.3:c.507+26_507+29del	NP_000018.2:n.507+26_507+29del
NM_001171988.1:c.507+26_507+29del	NP_001165459.1:n.507+26_507+29del
NR_033655.1:n.635+26_635+29del
XM_006714123.2:c.507+26_507+29del	XP_006714186.1:n.507+26_507+29del
XR_001741155.2:n.601+26_601+29del
NM_000027.4:c.507+26_507+29del MANE Select	NP_000018.2:n.507+26_507+29del
NM_001171988.2:c.507+26_507+29del	NP_001165459.1:n.507+26_507+29del
NR_033655.2:n.569+26_569+29del