Canonical Allele Identifier: CA643005911
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1569281082
gnomAD v2: X-73641619-C-CGAGCCCCAGCCG
gnomAD v3: X-74421784-C-CGAGCCCCAGCCG
gnomAD v4: X-74421784-C-CGAGCCCCAGCCG
MyVariant Identifiers: chrX:g.73641619_73641620insGAGCCCCAGCCG (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421796_74421807dup , CM000685.2:g.74421796_74421807dup GRCh38
NC_000023.10:g.73641631_73641642dup , CM000685.1:g.73641631_73641642dup GRCh37
NC_000023.9:g.73558356_73558367dup NCBI36
NG_011641.1:g.5547_5558dup
NG_011641.2:g.5547_5558dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.159_170dup MANE Select ENSP00000465734.1:p.Pro57_Leu58insGluProGlnPro
ENST00000587091.5:c.159_170dup ENSP00000465734.1:p.Pro57_Leu58insGluProGlnPro
NM_006517.4:c.159_170dup NP_006508.2:p.Pro57_Leu58insGluProGlnPro
XM_005262294.1:c.159_170dup XP_005262351.1:p.Pro57_Leu58insGluProGlnPro
XM_011531015.1:c.159_170dup XP_011529317.1:p.Pro57_Leu58insGluProGlnPro
NM_006517.5:c.159_170dup MANE Select NP_006508.2:p.Pro57_Leu58insGluProGlnPro
Search 100 bp 5'
Search 100 bp 3'