Canonical Allele Identifier: CA2580075503

Gene: DSP

Linked Data

• ClinVar Variation Id: 2109944
• ClinVar RCV Id: RCV003042127

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583044_7583047del , CM000668.2:g.7583044_7583047del	GRCh38
NC_000006.11:g.7583277_7583280del , CM000668.1:g.7583277_7583280del	GRCh37
NC_000006.10:g.7528276_7528279del	NCBI36
NG_008803.1:g.46408_46411del , LRG_423:g.46408_46411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4453_4456del	ENSP00000518230.1:p.Leu1485LysfsTer?
ENST00000379802.8:c.5782_5785del MANE Select	ENSP00000369129.3:p.Leu1928LysfsTer?
ENST00000379802.7:c.5782_5785del	ENSP00000369129.3:p.Leu1928LysfsTer?
ENST00000418664.2:c.3985_3988del	ENSP00000396591.2:p.Leu1329LysfsTer?
NM_001008844.1:c.3985_3988del	NP_001008844.1:p.Leu1329LysfsTer?
NM_004415.2:c.5782_5785del , LRG_423t1:c.5782_5785del	NP_004406.2:p.Leu1928LysfsTer?
XM_011514323.1:c.4453_4456del	XP_011512625.1:p.Leu1485LysfsTer?
NM_001008844.2:c.3985_3988del	NP_001008844.1:p.Leu1329LysfsTer?
NM_001319034.1:c.4453_4456del	NP_001305963.1:p.Leu1485LysfsTer?
NM_004415.3:c.5782_5785del	NP_004406.2:p.Leu1928LysfsTer?
NM_004415.4:c.5782_5785del MANE Select	NP_004406.2:p.Leu1928LysfsTer?
NM_001008844.3:c.3985_3988del	NP_001008844.1:p.Leu1329LysfsTer?
NM_001319034.2:c.4453_4456del	NP_001305963.1:p.Leu1485LysfsTer?