Canonical Allele Identifier: CA538918050

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1444593310
• gnomAD v2: 2-190439904-T-TC
• MyVariant Identifiers: chr2:g.190439904_190439905insC (hg19) ; chr2:g.189575178_189575179insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575178_189575179insC , CM000664.2:g.189575178_189575179insC	GRCh38
NC_000002.11:g.190439904_190439905insC , CM000664.1:g.190439904_190439905insC	GRCh37
NC_000002.10:g.190148149_190148150insC	NCBI36
NG_009027.1:g.10633_10634insG , LRG_837:g.10633_10634insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.253_254insG MANE Select	ENSP00000261024.3:p.Lys85ArgfsTer4
ENST00000261024.6:c.253_254insG	ENSP00000261024.2:p.Lys85ArgfsTer4
ENST00000418714.1:n.694_695insG
ENST00000427241.5:c.253_254insG	ENSP00000390005.1:p.Lys85ArgfsTer4
ENST00000479598.5:n.534_535insG
NM_014585.5:c.253_254insG , LRG_837t1:c.253_254insG	NP_055400.1:p.Lys85ArgfsTer4
XM_005246505.1:c.133_134insG	XP_005246562.1:p.Lys45ArgfsTer4
XM_005246505.2:c.133_134insG	XP_005246562.1:p.Lys45ArgfsTer4
XM_017003938.2:c.133_134insG	XP_016859427.1:p.Lys45ArgfsTer4
NM_014585.6:c.253_254insG MANE Select	NP_055400.1:p.Lys85ArgfsTer4