Canonical Allele Identifier: CA645519889

Gene: SLC40A1

Linked Data

• dbSNP Id: rs2031254798
• COSMIC: COSM1014007

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575290_189575291del , CM000664.2:g.189575290_189575291del	GRCh38
NC_000002.11:g.190440016_190440017del , CM000664.1:g.190440016_190440017del	GRCh37
NC_000002.10:g.190148261_190148262del	NCBI36
NG_009027.1:g.10524_10525del , LRG_837:g.10524_10525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.144_145del MANE Select	ENSP00000261024.3:p.Phe49SerfsTer?
ENST00000261024.6:c.144_145del	ENSP00000261024.2:p.Phe49SerfsTer?
ENST00000418714.1:n.585_586del
ENST00000427241.5:c.144_145del	ENSP00000390005.1:p.Phe49SerfsTer?
ENST00000455320.5:c.144_145del	ENSP00000413549.1:p.Phe49SerfsTer?
ENST00000479598.5:n.425_426del
NM_014585.5:c.144_145del , LRG_837t1:c.144_145del	NP_055400.1:p.Phe49SerfsTer?
XM_005246505.1:c.24_25del	XP_005246562.1:p.Phe9SerfsTer?
XM_005246505.2:c.24_25del	XP_005246562.1:p.Phe9SerfsTer?
XM_017003938.2:c.24_25del	XP_016859427.1:p.Phe9SerfsTer?
NM_014585.6:c.144_145del MANE Select	NP_055400.1:p.Phe49SerfsTer?