Canonical Allele Identifier: CA1040449922
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030830902
gnomAD v3: 2-189563709-AT-A
gnomAD v4: 2-189563709-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563712del , CM000664.2:g.189563712del GRCh38
NC_000002.11:g.190428438del , CM000664.1:g.190428438del GRCh37
NC_000002.10:g.190136683del NCBI36
NG_009027.1:g.22102del , LRG_837:g.22102del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1276del MANE Select ENSP00000261024.3:p.Ile426LeufsTer27
ENST00000261024.6:c.1276del ENSP00000261024.2:p.Ile426LeufsTer27
NM_014585.5:c.1276del , LRG_837t1:c.1276del NP_055400.1:p.Ile426LeufsTer27
XM_005246505.1:c.1156del XP_005246562.1:p.Ile386LeufsTer27
XM_005246505.2:c.1156del XP_005246562.1:p.Ile386LeufsTer27
XM_017003938.2:c.1156del XP_016859427.1:p.Ile386LeufsTer27
NM_014585.6:c.1276del MANE Select NP_055400.1:p.Ile426LeufsTer27
Search 100 bp 5'
Search 100 bp 3'