Canonical Allele Identifier: CA1315654007
Gene: SLC40A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563770_189563771delinsCA , CM000664.2:g.189563770_189563771delinsCA GRCh38
NC_000002.11:g.190428496_190428497delinsCA , CM000664.1:g.190428496_190428497delinsCA GRCh37
NC_000002.10:g.190136741_190136742delinsCA NCBI36
NG_009027.1:g.22041_22042delinsTG , LRG_837:g.22041_22042delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1215_1216delinsTG MANE Select ENSP00000261024.3:p.Phe405=
ENST00000261024.6:c.1215_1216delinsTG ENSP00000261024.2:p.Phe405=
NM_014585.5:c.1215_1216delinsTG , LRG_837t1:c.1215_1216delinsTG NP_055400.1:p.Phe405=
XM_005246505.1:c.1095_1096delinsTG XP_005246562.1:p.Phe365=
XM_005246505.2:c.1095_1096delinsTG XP_005246562.1:p.Phe365=
XM_017003938.2:c.1095_1096delinsTG XP_016859427.1:p.Phe365=
NM_014585.6:c.1215_1216delinsTG MANE Select NP_055400.1:p.Phe405=
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