Canonical Allele Identifier: CA2662328577

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189563741-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563743del , CM000664.2:g.189563743del	GRCh38
NC_000002.11:g.190428469del , CM000664.1:g.190428469del	GRCh37
NC_000002.10:g.190136714del	NCBI36
NG_009027.1:g.22070del , LRG_837:g.22070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.1244del MANE Select	ENSP00000261024.3:p.Gly415GlufsTer?
ENST00000261024.6:c.1244del	ENSP00000261024.2:p.Gly415GlufsTer?
NM_014585.5:c.1244del , LRG_837t1:c.1244del	NP_055400.1:p.Gly415GlufsTer?
XM_005246505.1:c.1124del	XP_005246562.1:p.Gly375GlufsTer?
XM_005246505.2:c.1124del	XP_005246562.1:p.Gly375GlufsTer?
XM_017003938.2:c.1124del	XP_016859427.1:p.Gly375GlufsTer?
NM_014585.6:c.1244del MANE Select	NP_055400.1:p.Gly415GlufsTer?