Canonical Allele Identifier: CA2672748573

Gene: AGA

Linked Data

• gnomAD v4: 4-177442265-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442267del , CM000666.2:g.177442267del	GRCh38
NC_000004.11:g.178363421del , CM000666.1:g.178363421del	GRCh37
NC_000004.10:g.178600415del	NCBI36
NG_011845.2:g.5238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.110del MANE Select	ENSP00000264595.2:p.Lys37ArgfsTer11
ENST00000264595.6:c.110del	ENSP00000264595.2:p.Lys37ArgfsTer11
ENST00000506853.5:n.144del
ENST00000510955.5:n.144del
ENST00000511231.1:n.144del
NM_000027.3:c.110del	NP_000018.2:p.Lys37ArgfsTer11
NM_001171988.1:c.110del	NP_001165459.1:p.Lys37ArgfsTer11
NR_033655.1:n.238del
XM_006714123.2:c.110del	XP_006714186.1:p.Lys37ArgfsTer11
XR_001741155.2:n.204del
NM_000027.4:c.110del MANE Select	NP_000018.2:p.Lys37ArgfsTer11
NM_001171988.2:c.110del	NP_001165459.1:p.Lys37ArgfsTer11
NR_033655.2:n.172del