Canonical Allele Identifier: CA430502615
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190430200del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565475del , CM000664.2:g.189565475del GRCh38
NC_000002.11:g.190430201del , CM000664.1:g.190430201del GRCh37
NC_000002.10:g.190138446del NCBI36
NG_009027.1:g.20338del , LRG_837:g.20338del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.640del MANE Select ENSP00000261024.3:p.Val214TyrfsTer20
ENST00000261024.6:c.640del ENSP00000261024.2:p.Val214TyrfsTer20
NM_014585.5:c.640del , LRG_837t1:c.640del NP_055400.1:p.Val214TyrfsTer20
XM_005246505.1:c.520del XP_005246562.1:p.Val174TyrfsTer20
XM_005246505.2:c.520del XP_005246562.1:p.Val174TyrfsTer20
XM_017003938.2:c.520del XP_016859427.1:p.Val174TyrfsTer20
NM_014585.6:c.640del MANE Select NP_055400.1:p.Val214TyrfsTer20
Search 100 bp 5'
Search 100 bp 3'