Canonical Allele Identifier: CA2024094

Gene: SLC40A1

Linked Data

• dbSNP Id: rs780360418
• ExAC: 2:190428442 G / GT
• gnomAD v2: 2-190428442-G-GT
• MyVariant Identifiers: chr2:g.190428442_190428443insT (hg19) ; chr2:g.189563716_189563717insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563717dup , CM000664.2:g.189563717dup	GRCh38
NC_000002.11:g.190428443dup , CM000664.1:g.190428443dup	GRCh37
NC_000002.10:g.190136688dup	NCBI36
NG_009027.1:g.22095dup , LRG_837:g.22095dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.1269dup MANE Select	ENSP00000261024.3:p.Pro424ThrfsTer2
ENST00000261024.6:c.1269dup	ENSP00000261024.2:p.Pro424ThrfsTer2
NM_014585.5:c.1269dup , LRG_837t1:c.1269dup	NP_055400.1:p.Pro424ThrfsTer2
XM_005246505.1:c.1149dup	XP_005246562.1:p.Pro384ThrfsTer2
XM_005246505.2:c.1149dup	XP_005246562.1:p.Pro384ThrfsTer2
XM_017003938.2:c.1149dup	XP_016859427.1:p.Pro384ThrfsTer2
NM_014585.6:c.1269dup MANE Select	NP_055400.1:p.Pro424ThrfsTer2