Canonical Allele Identifier: CA10611814
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 333180
ClinVar RCV Id: RCV000319381
dbSNP Id: rs3833570
gnomAD v2: 2-190445495-T-TCCGCCG
gnomAD v3: 2-189580769-T-TCCGCCG
gnomAD v4: 2-189580769-T-TCCGCCG
MyVariant Identifiers: chr2:g.190445496_190445501dupCCGCCG (hg19) chr2:g.190445501_190445502insCCGCCG (hg19) chr2:g.190445495_190445496insCCGCCG (hg19) chr2:g.189580770_189580775dupCCGCCG (hg38) chr2:g.189580775_189580776insCCGCCG (hg38) chr2:g.189580769_189580770insCCGCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189580785_189580790dup , CM000664.2:g.189580785_189580790dup GRCh38
NC_000002.11:g.190445511_190445516dup , CM000664.1:g.190445511_190445516dup GRCh37
NC_000002.10:g.190153756_190153761dup NCBI36
NG_009027.1:g.5037_5042dup , LRG_837:g.5037_5042dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.6:c.-315_-310dup ENSP00000261024.2:n.-315_-310dup
ENST00000427241.5:c.-102-213_-102-208dup ENSP00000390005.1:n.-102-213_-102-208dup
ENST00000427419.5:c.-102-213_-102-208dup ENSP00000392730.1:n.-102-213_-102-208dup
ENST00000440626.1:c.-64-251_-64-246dup ENSP00000396134.1:n.-64-251_-64-246dup
ENST00000455320.5:c.-102-213_-102-208dup ENSP00000413549.1:n.-102-213_-102-208dup
NM_014585.5:c.-315_-310dup , LRG_837t1:c.-315_-310dup NP_055400.1:n.-315_-310dup
XM_005246505.1:c.-570_-565dup XP_005246562.1:n.-570_-565dup
XM_005246505.2:c.-570_-565dup XP_005246562.1:n.-570_-565dup
XM_017003938.2:c.-689_-684dup XP_016859427.1:n.-689_-684dup
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