Canonical Allele Identifier: CA916735262
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs1559013271
gnomAD v4: 2-189571756-CAATCCCTTTGGATTGTGATTGCAGTAGCAGTACTGGCCAAATTTGCAATATTTGCAATAGTGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571757_189571819del , CM000664.2:g.189571757_189571819del GRCh38
NC_000002.11:g.190436483_190436545del , CM000664.1:g.190436483_190436545del GRCh37
NC_000002.10:g.190144728_190144790del NCBI36
NG_009027.1:g.13993_14055del , LRG_837:g.13993_14055del

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.410_472del MANE Select ENSP00000261024.3:p.Ile137_Trp158delinsArg
ENST00000261024.6:c.410_472del ENSP00000261024.2:p.Ile137_Trp158delinsArg
ENST00000427241.5:c.410_472del ENSP00000390005.1:p.Ile137_Trp158delinsArg
NM_014585.5:c.410_472del , LRG_837t1:c.410_472del NP_055400.1:p.Ile137_Trp158delinsArg
XM_005246505.1:c.290_352del XP_005246562.1:p.Ile97_Trp118delinsArg
XM_005246505.2:c.290_352del XP_005246562.1:p.Ile97_Trp118delinsArg
XM_017003938.2:c.290_352del XP_016859427.1:p.Ile97_Trp118delinsArg
NM_014585.6:c.410_472del MANE Select NP_055400.1:p.Ile137_Trp158delinsArg
Search 100 bp 5'
Search 100 bp 3'