Canonical Allele Identifier: CA2753593986

Gene: SLC40A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571748del , CM000664.2:g.189571748del	GRCh38
NC_000002.11:g.190436474del , CM000664.1:g.190436474del	GRCh37
NC_000002.10:g.190144719del	NCBI36
NG_009027.1:g.14064del , LRG_837:g.14064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.481del MANE Select	ENSP00000261024.3:p.Val161LeufsTer10
ENST00000261024.6:c.481del	ENSP00000261024.2:p.Val161LeufsTer10
ENST00000427241.5:c.481del	ENSP00000390005.1:p.Val161LeufsTer10
NM_014585.5:c.481del , LRG_837t1:c.481del	NP_055400.1:p.Val161LeufsTer10
XM_005246505.1:c.361del	XP_005246562.1:p.Val121LeufsTer10
XM_005246505.2:c.361del	XP_005246562.1:p.Val121LeufsTer10
XM_017003938.2:c.361del	XP_016859427.1:p.Val121LeufsTer10
NM_014585.6:c.481del MANE Select	NP_055400.1:p.Val161LeufsTer10