Canonical Allele Identifier: CA2662328788
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189564172-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564173dup , CM000664.2:g.189564173dup GRCh38
NC_000002.11:g.190428899dup , CM000664.1:g.190428899dup GRCh37
NC_000002.10:g.190137144dup NCBI36
NG_009027.1:g.21639dup , LRG_837:g.21639dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.813dup MANE Select ENSP00000261024.3:p.Asn272Ter
ENST00000261024.6:c.813dup ENSP00000261024.2:p.Asn272Ter
NM_014585.5:c.813dup , LRG_837t1:c.813dup NP_055400.1:p.Asn272Ter
XM_005246505.1:c.693dup XP_005246562.1:p.Asn232Ter
XM_005246505.2:c.693dup XP_005246562.1:p.Asn232Ter
XM_017003938.2:c.693dup XP_016859427.1:p.Asn232Ter
NM_014585.6:c.813dup MANE Select NP_055400.1:p.Asn272Ter
Search 100 bp 5'
Search 100 bp 3'