Canonical Allele Identifier: CA2753593829
Gene: SLC40A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564034_189564035insC , CM000664.2:g.189564034_189564035insC GRCh38
NC_000002.11:g.190428760_190428761insC , CM000664.1:g.190428760_190428761insC GRCh37
NC_000002.10:g.190137005_190137006insC NCBI36
NG_009027.1:g.21777_21778insG , LRG_837:g.21777_21778insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.951_952insG MANE Select ENSP00000261024.3:p.Tyr318ValfsTer8
ENST00000261024.6:c.951_952insG ENSP00000261024.2:p.Tyr318ValfsTer8
NM_014585.5:c.951_952insG , LRG_837t1:c.951_952insG NP_055400.1:p.Tyr318ValfsTer8
XM_005246505.1:c.831_832insG XP_005246562.1:p.Tyr278ValfsTer8
XM_005246505.2:c.831_832insG XP_005246562.1:p.Tyr278ValfsTer8
XM_017003938.2:c.831_832insG XP_016859427.1:p.Tyr278ValfsTer8
NM_014585.6:c.951_952insG MANE Select NP_055400.1:p.Tyr318ValfsTer8
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