Canonical Allele Identifier: CA658823277

Gene: AGA

Linked Data

• ClinVar Variation Id: 556567
• ClinVar RCV Id: RCV000672589
• dbSNP Id: rs1553994755
• MyVariant Identifiers: chr4:g.177439594del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439594del , CM000666.2:g.177439594del	GRCh38
NC_000004.11:g.178360748del , CM000666.1:g.178360748del	GRCh37
NC_000004.10:g.178597742del	NCBI36
NG_011845.2:g.7910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.376del MANE Select	ENSP00000264595.2:p.Leu126PhefsTer2
ENST00000264595.6:c.376del	ENSP00000264595.2:p.Leu126PhefsTer2
ENST00000502310.5:c.31del	ENSP00000423798.1:p.Leu11PhefsTer2
ENST00000506853.5:n.410del
ENST00000510635.1:c.72del
ENST00000510955.5:n.315+679del
NM_000027.3:c.376del	NP_000018.2:p.Leu126PhefsTer2
NM_001171988.1:c.376del	NP_001165459.1:p.Leu126PhefsTer2
NR_033655.1:n.504del
XM_006714123.2:c.376del	XP_006714186.1:p.Leu126PhefsTer2
XR_001741155.2:n.470del
NM_000027.4:c.376del MANE Select	NP_000018.2:p.Leu126PhefsTer2
NM_001171988.2:c.376del	NP_001165459.1:p.Leu126PhefsTer2
NR_033655.2:n.438del