Canonical Allele Identifier: CA2662328576
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189563623-CAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563627_189563628del , CM000664.2:g.189563627_189563628del GRCh38
NC_000002.11:g.190428353_190428354del , CM000664.1:g.190428353_190428354del GRCh37
NC_000002.10:g.190136598_190136599del NCBI36
NG_009027.1:g.22187_22188del , LRG_837:g.22187_22188del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1361_1362del MANE Select ENSP00000261024.3:p.Ser454CysfsTer12
ENST00000261024.6:c.1361_1362del ENSP00000261024.2:p.Ser454CysfsTer12
NM_014585.5:c.1361_1362del , LRG_837t1:c.1361_1362del NP_055400.1:p.Ser454CysfsTer12
XM_005246505.1:c.1241_1242del XP_005246562.1:p.Ser414CysfsTer12
XM_005246505.2:c.1241_1242del XP_005246562.1:p.Ser414CysfsTer12
XM_017003938.2:c.1241_1242del XP_016859427.1:p.Ser414CysfsTer12
NM_014585.6:c.1361_1362del MANE Select NP_055400.1:p.Ser454CysfsTer12
Search 100 bp 5'
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