Canonical Allele Identifier: CA2662329091
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189575255-AAGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575259_189575261del , CM000664.2:g.189575259_189575261del GRCh38
NC_000002.11:g.190439985_190439987del , CM000664.1:g.190439985_190439987del GRCh37
NC_000002.10:g.190148230_190148232del NCBI36
NG_009027.1:g.10554_10556del , LRG_837:g.10554_10556del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.174_176del MANE Select ENSP00000261024.3:p.Leu59del
ENST00000261024.6:c.174_176del ENSP00000261024.2:p.Leu59del
ENST00000418714.1:n.615_617del
ENST00000427241.5:c.174_176del ENSP00000390005.1:p.Leu59del
ENST00000479598.5:n.455_457del
NM_014585.5:c.174_176del , LRG_837t1:c.174_176del NP_055400.1:p.Leu59del
XM_005246505.1:c.54_56del XP_005246562.1:p.Leu19del
XM_005246505.2:c.54_56del XP_005246562.1:p.Leu19del
XM_017003938.2:c.54_56del XP_016859427.1:p.Leu19del
NM_014585.6:c.174_176del MANE Select NP_055400.1:p.Leu59del
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