Canonical Allele Identifier: CA2662329061
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189565354-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565357del , CM000664.2:g.189565357del GRCh38
NC_000002.11:g.190430083del , CM000664.1:g.190430083del GRCh37
NC_000002.10:g.190138328del NCBI36
NG_009027.1:g.20457del , LRG_837:g.20457del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.759del MANE Select ENSP00000261024.3:p.Asp254IlefsTer12
ENST00000261024.6:c.759del ENSP00000261024.2:p.Asp254IlefsTer12
NM_014585.5:c.759del , LRG_837t1:c.759del NP_055400.1:p.Asp254IlefsTer12
XM_005246505.1:c.639del XP_005246562.1:p.Asp214IlefsTer12
XM_005246505.2:c.639del XP_005246562.1:p.Asp214IlefsTer12
XM_017003938.2:c.639del XP_016859427.1:p.Asp214IlefsTer12
NM_014585.6:c.759del MANE Select NP_055400.1:p.Asp254IlefsTer12
Search 100 bp 5'
Search 100 bp 3'