Canonical Allele Identifier: CA2641405666
Gene: DSG2 HGNC NCBI

Linked Data

gnomAD v4: 18-31498226-C-CGGCGGGAGGCGGAGGCGAGGGTGCGAT
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31498231_31498257dup , CM000680.2:g.31498231_31498257dup GRCh38
NC_000018.9:g.29078194_29078220dup , CM000680.1:g.29078194_29078220dup GRCh37
NC_000018.8:g.27332192_27332218dup NCBI36
NG_007072.3:g.4990_5016dup , LRG_397:g.4990_5016dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682241.2:c.-21_6dup ENSP00000507600.2:p.Ala2_Arg3insGlyGlyGlyGlyGluGlyAlaMetAla
ENST00000261590.13:c.-21_6dup MANE Select ENSP00000261590.8:p.Ala2_Arg3insGlyGlyGlyGlyGluGlyAlaMetAla
ENST00000261590.12:c.-21_6dup ENSP00000261590.8:p.Ala2_Arg3insGlyGlyGlyGlyGluGlyAlaMetAla
ENST00000585206.1:c.-21_6dup ENSP00000462503.1:p.Ala2_Arg3insGlyGlyGlyGlyGluGlyAlaMetAla
NM_001943.3:c.-21_6dup , LRG_397t1:c.-21_6dup NP_001934.2:p.Ala2_Arg3insGlyGlyGlyGlyGluGlyAlaMetAla
NM_001943.4:c.-21_6dup NP_001934.2:p.Ala2_Arg3insGlyGlyGlyGlyGluGlyAlaMetAla
NM_001943.5:c.-21_6dup MANE Select NP_001934.2:p.Ala2_Arg3insGlyGlyGlyGlyGluGlyAlaMetAla
Search 100 bp 5'
Search 100 bp 3'