Canonical Allele Identifier: CA2662328693
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189564033-TAAAGG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564038_189564042del , CM000664.2:g.189564038_189564042del GRCh38
NC_000002.11:g.190428764_190428768del , CM000664.1:g.190428764_190428768del GRCh37
NC_000002.10:g.190137009_190137013del NCBI36
NG_009027.1:g.21774_21778del , LRG_837:g.21774_21778del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.948_952del MANE Select ENSP00000261024.3:p.Phe316LeufsTer8
ENST00000261024.6:c.948_952del ENSP00000261024.2:p.Phe316LeufsTer8
NM_014585.5:c.948_952del , LRG_837t1:c.948_952del NP_055400.1:p.Phe316LeufsTer8
XM_005246505.1:c.828_832del XP_005246562.1:p.Phe276LeufsTer8
XM_005246505.2:c.828_832del XP_005246562.1:p.Phe276LeufsTer8
XM_017003938.2:c.828_832del XP_016859427.1:p.Phe276LeufsTer8
NM_014585.6:c.948_952del MANE Select NP_055400.1:p.Phe316LeufsTer8
Search 100 bp 5'
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