Canonical Allele Identifier: CA62903038
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs950092772
gnomAD v3: 2-189565176-GT-G
gnomAD v4: 2-189565176-GT-G
MyVariant Identifiers: chr2:g.190429903del (hg19) chr2:g.189565177del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565181del , CM000664.2:g.189565181del GRCh38
NC_000002.11:g.190429907del , CM000664.1:g.190429907del GRCh37
NC_000002.10:g.190138152del NCBI36
NG_009027.1:g.20635del , LRG_837:g.20635del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.760+177del MANE Select ENSP00000261024.3:n.760+177del
ENST00000261024.6:c.760+177del ENSP00000261024.2:n.760+177del
NM_014585.5:c.760+177del , LRG_837t1:c.760+177del NP_055400.1:n.760+177del
XM_005246505.1:c.640+177del XP_005246562.1:n.640+177del
XM_005246505.2:c.640+177del XP_005246562.1:n.640+177del
XM_017003938.2:c.640+177del XP_016859427.1:n.640+177del
NM_014585.6:c.760+177del MANE Select NP_055400.1:n.760+177del
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