Canonical Allele Identifier: CA2573332574

Gene: DSP

Linked Data

• ClinVar Variation Id: 1445018
• ClinVar RCV Id: RCV001982699
• dbSNP Id: rs2113692271
• gnomAD v4: 6-7579825-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579829_7579830del , CM000668.2:g.7579829_7579830del	GRCh38
NC_000006.11:g.7580062_7580063del , CM000668.1:g.7580062_7580063del	GRCh37
NC_000006.10:g.7525061_7525062del	NCBI36
NG_008803.1:g.43193_43194del , LRG_423:g.43193_43194del

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.3639_3640del	ENSP00000518230.1:p.Glu1213AspfsTer2
ENST00000379802.8:c.3639_3640del MANE Select	ENSP00000369129.3:p.Glu1213AspfsTer2
ENST00000379802.7:c.3639_3640del	ENSP00000369129.3:p.Glu1213AspfsTer2
ENST00000418664.2:c.3582+57_3582+58del	ENSP00000396591.2:n.3582+57_3582+58del
NM_001008844.1:c.3582+57_3582+58del	NP_001008844.1:n.3582+57_3582+58del
NM_004415.2:c.3639_3640del , LRG_423t1:c.3639_3640del	NP_004406.2:p.Glu1213AspfsTer2
XM_011514323.1:c.3639_3640del	XP_011512625.1:p.Glu1213AspfsTer2
NM_001008844.2:c.3582+57_3582+58del	NP_001008844.1:n.3582+57_3582+58del
NM_001319034.1:c.3639_3640del	NP_001305963.1:p.Glu1213AspfsTer2
NM_004415.3:c.3639_3640del	NP_004406.2:p.Glu1213AspfsTer2
NM_004415.4:c.3639_3640del MANE Select	NP_004406.2:p.Glu1213AspfsTer2
NM_001008844.3:c.3582+57_3582+58del	NP_001008844.1:n.3582+57_3582+58del
NM_001319034.2:c.3639_3640del	NP_001305963.1:p.Glu1213AspfsTer2