Canonical Allele Identifier: CA2662329079
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189565387-CCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565390_189565391del , CM000664.2:g.189565390_189565391del GRCh38
NC_000002.11:g.190430116_190430117del , CM000664.1:g.190430116_190430117del GRCh37
NC_000002.10:g.190138361_190138362del NCBI36
NG_009027.1:g.20423_20424del , LRG_837:g.20423_20424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.725_726del MANE Select ENSP00000261024.3:p.Glu242GlyfsTer3
ENST00000261024.6:c.725_726del ENSP00000261024.2:p.Glu242GlyfsTer3
NM_014585.5:c.725_726del , LRG_837t1:c.725_726del NP_055400.1:p.Glu242GlyfsTer3
XM_005246505.1:c.605_606del XP_005246562.1:p.Glu202GlyfsTer3
XM_005246505.2:c.605_606del XP_005246562.1:p.Glu202GlyfsTer3
XM_017003938.2:c.605_606del XP_016859427.1:p.Glu202GlyfsTer3
NM_014585.6:c.725_726del MANE Select NP_055400.1:p.Glu242GlyfsTer3
Search 100 bp 5'
Search 100 bp 3'