Canonical Allele Identifier: CA2662329071
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189565361-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565364del , CM000664.2:g.189565364del GRCh38
NC_000002.11:g.190430090del , CM000664.1:g.190430090del GRCh37
NC_000002.10:g.190138335del NCBI36
NG_009027.1:g.20450del , LRG_837:g.20450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.752del MANE Select ENSP00000261024.3:p.Leu251TyrfsTer15
ENST00000261024.6:c.752del ENSP00000261024.2:p.Leu251TyrfsTer15
NM_014585.5:c.752del , LRG_837t1:c.752del NP_055400.1:p.Leu251TyrfsTer15
XM_005246505.1:c.632del XP_005246562.1:p.Leu211TyrfsTer15
XM_005246505.2:c.632del XP_005246562.1:p.Leu211TyrfsTer15
XM_017003938.2:c.632del XP_016859427.1:p.Leu211TyrfsTer15
NM_014585.6:c.752del MANE Select NP_055400.1:p.Leu251TyrfsTer15
Search 100 bp 5'
Search 100 bp 3'