Canonical Allele Identifier: CA2532395732

Gene: SLC40A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571753del , CM000664.2:g.189571753del	GRCh38
NC_000002.11:g.190436479del , CM000664.1:g.190436479del	GRCh37
NC_000002.10:g.190144724del	NCBI36
NG_009027.1:g.14060del , LRG_837:g.14060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.477del MANE Select	ENSP00000261024.3:p.Ile159MetfsTer12
ENST00000261024.6:c.477del	ENSP00000261024.2:p.Ile159MetfsTer12
ENST00000427241.5:c.477del	ENSP00000390005.1:p.Ile159MetfsTer12
NM_014585.5:c.477del , LRG_837t1:c.477del	NP_055400.1:p.Ile159MetfsTer12
XM_005246505.1:c.357del	XP_005246562.1:p.Ile119MetfsTer12
XM_005246505.2:c.357del	XP_005246562.1:p.Ile119MetfsTer12
XM_017003938.2:c.357del	XP_016859427.1:p.Ile119MetfsTer12
NM_014585.6:c.477del MANE Select	NP_055400.1:p.Ile159MetfsTer12