Canonical Allele Identifier: CA1085707805

Gene: DSP

Linked Data

• dbSNP Id: rs1759496532
• gnomAD v3: 6-7583038-TCA-T
• gnomAD v4: 6-7583038-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583041_7583042del , CM000668.2:g.7583041_7583042del	GRCh38
NC_000006.11:g.7583274_7583275del , CM000668.1:g.7583274_7583275del	GRCh37
NC_000006.10:g.7528273_7528274del	NCBI36
NG_008803.1:g.46405_46406del , LRG_423:g.46405_46406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4450_4451del	ENSP00000518230.1:p.Gln1484ValfsTer13
ENST00000379802.8:c.5779_5780del MANE Select	ENSP00000369129.3:p.Gln1927ValfsTer13
ENST00000379802.7:c.5779_5780del	ENSP00000369129.3:p.Gln1927ValfsTer13
ENST00000418664.2:c.3982_3983del	ENSP00000396591.2:p.Gln1328ValfsTer13
NM_001008844.1:c.3982_3983del	NP_001008844.1:p.Gln1328ValfsTer13
NM_004415.2:c.5779_5780del , LRG_423t1:c.5779_5780del	NP_004406.2:p.Gln1927ValfsTer13
XM_011514323.1:c.4450_4451del	XP_011512625.1:p.Gln1484ValfsTer13
NM_001008844.2:c.3982_3983del	NP_001008844.1:p.Gln1328ValfsTer13
NM_001319034.1:c.4450_4451del	NP_001305963.1:p.Gln1484ValfsTer13
NM_004415.3:c.5779_5780del	NP_004406.2:p.Gln1927ValfsTer13
NM_004415.4:c.5779_5780del MANE Select	NP_004406.2:p.Gln1927ValfsTer13
NM_001008844.3:c.3982_3983del	NP_001008844.1:p.Gln1328ValfsTer13
NM_001319034.2:c.4450_4451del	NP_001305963.1:p.Gln1484ValfsTer13