Canonical Allele Identifier: CA2293766657
Gene: DSG1 HGNC NCBI

Linked Data

dbSNP Id: rs2071687161
gnomAD v4: 18-31326561-GATTATCTT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31326565_31326572del , CM000680.2:g.31326565_31326572del GRCh38
NC_000018.9:g.28906528_28906535del , CM000680.1:g.28906528_28906535del GRCh37
NC_000018.8:g.27160526_27160533del NCBI36
NG_011803.2:g.13477_13484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000257192.5:c.49-16_49-9del MANE Select ENSP00000257192.4:n.49-16_49-9del
ENST00000257192.4:c.49-16_49-9del ENSP00000257192.4:n.49-16_49-9del
NM_001942.3:c.49-16_49-9del NP_001933.2:n.49-16_49-9del
NM_001942.4:c.49-16_49-9del MANE Select NP_001933.2:n.49-16_49-9del
Search 100 bp 5'
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