Canonical Allele Identifier: CA2580075387

Gene: DSP

Linked Data

• ClinVar Variation Id: 2089207
• ClinVar RCV Id: RCV003020403

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585138_7585139del , CM000668.2:g.7585138_7585139del	GRCh38
NC_000006.11:g.7585371_7585372del , CM000668.1:g.7585371_7585372del	GRCh37
NC_000006.10:g.7530370_7530371del	NCBI36
NG_008803.1:g.48502_48503del , LRG_423:g.48502_48503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6547_6548del	ENSP00000518230.1:p.Glu2183LysfsTer17
ENST00000379802.8:c.7876_7877del MANE Select	ENSP00000369129.3:p.Glu2626LysfsTer17
ENST00000379802.7:c.7876_7877del	ENSP00000369129.3:p.Glu2626LysfsTer17
ENST00000418664.2:c.6079_6080del	ENSP00000396591.2:p.Glu2027LysfsTer17
NM_001008844.1:c.6079_6080del	NP_001008844.1:p.Glu2027LysfsTer17
NM_004415.2:c.7876_7877del , LRG_423t1:c.7876_7877del	NP_004406.2:p.Glu2626LysfsTer17
XM_011514323.1:c.6547_6548del	XP_011512625.1:p.Glu2183LysfsTer17
NM_001008844.2:c.6079_6080del	NP_001008844.1:p.Glu2027LysfsTer17
NM_001319034.1:c.6547_6548del	NP_001305963.1:p.Glu2183LysfsTer17
NM_004415.3:c.7876_7877del	NP_004406.2:p.Glu2626LysfsTer17
NM_004415.4:c.7876_7877del MANE Select	NP_004406.2:p.Glu2626LysfsTer17
NM_001008844.3:c.6079_6080del	NP_001008844.1:p.Glu2027LysfsTer17
NM_001319034.2:c.6547_6548del	NP_001305963.1:p.Glu2183LysfsTer17