Canonical Allele Identifier: CA430367591
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190440038del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575313del , CM000664.2:g.189575313del GRCh38
NC_000002.11:g.190440039del , CM000664.1:g.190440039del GRCh37
NC_000002.10:g.190148284del NCBI36
NG_009027.1:g.10500del , LRG_837:g.10500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.120del MANE Select ENSP00000261024.3:p.Met41CysfsTer11
ENST00000261024.6:c.120del ENSP00000261024.2:p.Met41CysfsTer11
ENST00000418714.1:n.561del
ENST00000427241.5:c.120del ENSP00000390005.1:p.Met41CysfsTer11
ENST00000455320.5:c.120del ENSP00000413549.1:p.Met41CysfsTer11
ENST00000479598.5:n.401del
NM_014585.5:c.120del , LRG_837t1:c.120del NP_055400.1:p.Met41CysfsTer11
XM_005246505.1:c.-1del XP_005246562.1:n.-1del
XM_005246505.2:c.-1del XP_005246562.1:n.-1del
XM_017003938.2:c.-1del XP_016859427.1:n.-1del
NM_014585.6:c.120del MANE Select NP_055400.1:p.Met41CysfsTer11