Canonical Allele Identifier: CA538918049

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1200215414
• gnomAD v2: 2-190439902-T-TTTCAG
• MyVariant Identifiers: chr2:g.190439902_190439903insTTCAG (hg19) ; chr2:g.189575176_189575177insTTCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575176_189575177insTTCAG , CM000664.2:g.189575176_189575177insTTCAG	GRCh38
NC_000002.11:g.190439902_190439903insTTCAG , CM000664.1:g.190439902_190439903insTTCAG	GRCh37
NC_000002.10:g.190148147_190148148insTTCAG	NCBI36
NG_009027.1:g.10635_10636insCTGAA , LRG_837:g.10635_10636insCTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.255_256insCTGAA MANE Select	ENSP00000261024.3:p.Asn86LeufsTer27
ENST00000261024.6:c.255_256insCTGAA	ENSP00000261024.2:p.Asn86LeufsTer27
ENST00000418714.1:n.696_697insCTGAA
ENST00000427241.5:c.255_256insCTGAA	ENSP00000390005.1:p.Asn86LeufsTer27
ENST00000479598.5:n.536_537insCTGAA
NM_014585.5:c.255_256insCTGAA , LRG_837t1:c.255_256insCTGAA	NP_055400.1:p.Asn86LeufsTer27
XM_005246505.1:c.135_136insCTGAA	XP_005246562.1:p.Asn46LeufsTer27
XM_005246505.2:c.135_136insCTGAA	XP_005246562.1:p.Asn46LeufsTer27
XM_017003938.2:c.135_136insCTGAA	XP_016859427.1:p.Asn46LeufsTer27
NM_014585.6:c.255_256insCTGAA MANE Select	NP_055400.1:p.Asn86LeufsTer27