Canonical Allele Identifier: CA2662328593
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189563872-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563874del , CM000664.2:g.189563874del GRCh38
NC_000002.11:g.190428600del , CM000664.1:g.190428600del GRCh37
NC_000002.10:g.190136845del NCBI36
NG_009027.1:g.21939del , LRG_837:g.21939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1113del MANE Select ENSP00000261024.3:p.Thr372GlnfsTer3
ENST00000261024.6:c.1113del ENSP00000261024.2:p.Thr372GlnfsTer3
NM_014585.5:c.1113del , LRG_837t1:c.1113del NP_055400.1:p.Thr372GlnfsTer3
XM_005246505.1:c.993del XP_005246562.1:p.Thr332GlnfsTer3
XM_005246505.2:c.993del XP_005246562.1:p.Thr332GlnfsTer3
XM_017003938.2:c.993del XP_016859427.1:p.Thr332GlnfsTer3
NM_014585.6:c.1113del MANE Select NP_055400.1:p.Thr372GlnfsTer3
Search 100 bp 5'
Search 100 bp 3'