Canonical Allele Identifier: CA538917990

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1194839348
• gnomAD v2: 2-190430329-G-GAGAGGCAGGTGAA
• gnomAD v4: 2-189565603-G-GAGAGGCAGGTGAA
• MyVariant Identifiers: chr2:g.190430329_190430330insAGAGGCAGGTGAA (hg19) ; chr2:g.189565603_189565604insAGAGGCAGGTGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565614_189565626dup , CM000664.2:g.189565614_189565626dup	GRCh38
NC_000002.11:g.190430340_190430352dup , CM000664.1:g.190430340_190430352dup	GRCh37
NC_000002.10:g.190138585_190138597dup	NCBI36
NG_009027.1:g.20196_20208dup , LRG_837:g.20196_20208dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.515-17_515-5dup MANE Select	ENSP00000261024.3:n.515-17_515-5dup
ENST00000261024.6:c.515-17_515-5dup	ENSP00000261024.2:n.515-17_515-5dup
ENST00000427241.5:c.515-17_515-5dup	ENSP00000390005.1:n.515-17_515-5dup
NM_014585.5:c.515-17_515-5dup , LRG_837t1:c.515-17_515-5dup	NP_055400.1:n.515-17_515-5dup
XM_005246505.1:c.395-17_395-5dup	XP_005246562.1:n.395-17_395-5dup
XM_005246505.2:c.395-17_395-5dup	XP_005246562.1:n.395-17_395-5dup
XM_017003938.2:c.395-17_395-5dup	XP_016859427.1:n.395-17_395-5dup
NM_014585.6:c.515-17_515-5dup MANE Select	NP_055400.1:n.515-17_515-5dup