Canonical Allele Identifier: CA1315654038
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563793_189563794delinsAG , CM000664.2:g.189563793_189563794delinsAG GRCh38
NC_000002.11:g.190428519_190428520delinsAG , CM000664.1:g.190428519_190428520delinsAG GRCh37
NC_000002.10:g.190136764_190136765delinsAG NCBI36
NG_009027.1:g.22018_22019delinsCT , LRG_837:g.22018_22019delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1192_1193delinsCT MANE Select ENSP00000261024.3:p.Leu398=
ENST00000261024.6:c.1192_1193delinsCT ENSP00000261024.2:p.Leu398=
NM_014585.5:c.1192_1193delinsCT , LRG_837t1:c.1192_1193delinsCT NP_055400.1:p.Leu398=
XM_005246505.1:c.1072_1073delinsCT XP_005246562.1:p.Leu358=
XM_005246505.2:c.1072_1073delinsCT XP_005246562.1:p.Leu358=
XM_017003938.2:c.1072_1073delinsCT XP_016859427.1:p.Leu358=
NM_014585.6:c.1192_1193delinsCT MANE Select NP_055400.1:p.Leu398=