Canonical Allele Identifier: CA62904032
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs11568347
gnomAD v4: 2-189575150-AC-A
MyVariant Identifiers: chr2:g.190439877del (hg19) chr2:g.189575151del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575151del , CM000664.2:g.189575151del GRCh38
NC_000002.11:g.190439877del , CM000664.1:g.190439877del GRCh37
NC_000002.10:g.190148122del NCBI36
NG_009027.1:g.10661del , LRG_837:g.10661del

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.271+10del MANE Select ENSP00000261024.3:n.271+10del
ENST00000261024.6:c.271+10del ENSP00000261024.2:n.271+10del
ENST00000427241.5:c.271+10del ENSP00000390005.1:n.271+10del
ENST00000479598.5:n.552+10del
NM_014585.5:c.271+10del , LRG_837t1:c.271+10del NP_055400.1:n.271+10del
XM_005246505.1:c.151+10del XP_005246562.1:n.151+10del
XM_005246505.2:c.151+10del XP_005246562.1:n.151+10del
XM_017003938.2:c.151+10del XP_016859427.1:n.151+10del
NM_014585.6:c.271+10del MANE Select NP_055400.1:n.271+10del
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