Canonical Allele Identifier: CA2580614822
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 2567513
ClinVar RCV Id: RCV003278545

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565406_7565408del , CM000668.2:g.7565406_7565408del GRCh38
NC_000006.11:g.7565639_7565641del , CM000668.1:g.7565639_7565641del GRCh37
NC_000006.10:g.7510638_7510640del NCBI36
NG_008803.1:g.28770_28772del , LRG_423:g.28770_28772del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.825_827del ENSP00000518230.1:p.Ile276del
ENST00000682228.1:n.149_151del
ENST00000379802.8:c.825_827del MANE Select ENSP00000369129.3:p.Ile276del
ENST00000379802.7:c.825_827del ENSP00000369129.3:p.Ile276del
ENST00000418664.2:c.825_827del ENSP00000396591.2:p.Ile276del
ENST00000506617.1:n.343_345del
NM_001008844.1:c.825_827del NP_001008844.1:p.Ile276del
NM_004415.2:c.825_827del , LRG_423t1:c.825_827del NP_004406.2:p.Ile276del
XM_011514323.1:c.825_827del XP_011512625.1:p.Ile276del
NM_001008844.2:c.825_827del NP_001008844.1:p.Ile276del
NM_001319034.1:c.825_827del NP_001305963.1:p.Ile276del
NM_004415.3:c.825_827del NP_004406.2:p.Ile276del
NM_004415.4:c.825_827del MANE Select NP_004406.2:p.Ile276del
NM_001008844.3:c.825_827del NP_001008844.1:p.Ile276del
NM_001319034.2:c.825_827del NP_001305963.1:p.Ile276del