Canonical Allele Identifier: CA2573140824

Gene: DSP

Linked Data

• ClinVar Variation Id: 1364875
• ClinVar RCV Id: RCV001942520
• dbSNP Id: rs2113704840

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585581_7585603del , CM000668.2:g.7585581_7585603del	GRCh38
NC_000006.11:g.7585814_7585836del , CM000668.1:g.7585814_7585836del	GRCh37
NC_000006.10:g.7530813_7530835del	NCBI36
NG_008803.1:g.48945_48967del , LRG_423:g.48945_48967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6990_7012del	ENSP00000518230.1:p.Leu2331LysfsTer5
ENST00000379802.8:c.8319_8341del MANE Select	ENSP00000369129.3:p.Leu2774LysfsTer5
ENST00000379802.7:c.8319_8341del	ENSP00000369129.3:p.Leu2774LysfsTer5
ENST00000418664.2:c.6522_6544del	ENSP00000396591.2:p.Leu2175LysfsTer5
NM_001008844.1:c.6522_6544del	NP_001008844.1:p.Leu2175LysfsTer5
NM_004415.2:c.8319_8341del , LRG_423t1:c.8319_8341del	NP_004406.2:p.Leu2774LysfsTer5
XM_011514323.1:c.6990_7012del	XP_011512625.1:p.Leu2331LysfsTer5
NM_001008844.2:c.6522_6544del	NP_001008844.1:p.Leu2175LysfsTer5
NM_001319034.1:c.6990_7012del	NP_001305963.1:p.Leu2331LysfsTer5
NM_004415.3:c.8319_8341del	NP_004406.2:p.Leu2774LysfsTer5
NM_004415.4:c.8319_8341del MANE Select	NP_004406.2:p.Leu2774LysfsTer5
NM_001008844.3:c.6522_6544del	NP_001008844.1:p.Leu2175LysfsTer5
NM_001319034.2:c.6990_7012del	NP_001305963.1:p.Leu2331LysfsTer5