Canonical Allele Identifier: CA658655923

Gene: DSP

Linked Data

• ClinVar Variation Id: 464956
• ClinVar RCV Id: RCV000537408 ; RCV003302828
• dbSNP Id: rs1249913357
• MyVariant Identifiers: chr6:g.7567602_7567603del (hg19) ; chr6:g.7567369_7567370del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7567369_7567370del , CM000668.2:g.7567369_7567370del	GRCh38
NC_000006.11:g.7567602_7567603del , CM000668.1:g.7567602_7567603del	GRCh37
NC_000006.10:g.7512601_7512602del	NCBI36
NG_008803.1:g.30733_30734del , LRG_423:g.30733_30734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.1060_1061del	ENSP00000518230.1:p.Leu354AlafsTer15
ENST00000682228.1:n.384_385del
ENST00000379802.8:c.1060_1061del MANE Select	ENSP00000369129.3:p.Leu354AlafsTer15
ENST00000379802.7:c.1060_1061del	ENSP00000369129.3:p.Leu354AlafsTer15
ENST00000418664.2:c.1060_1061del	ENSP00000396591.2:p.Leu354AlafsTer15
NM_001008844.1:c.1060_1061del	NP_001008844.1:p.Leu354AlafsTer15
NM_004415.2:c.1060_1061del , LRG_423t1:c.1060_1061del	NP_004406.2:p.Leu354AlafsTer15
XM_011514323.1:c.1060_1061del	XP_011512625.1:p.Leu354AlafsTer15
NM_001008844.2:c.1060_1061del	NP_001008844.1:p.Leu354AlafsTer15
NM_001319034.1:c.1060_1061del	NP_001305963.1:p.Leu354AlafsTer15
NM_004415.3:c.1060_1061del	NP_004406.2:p.Leu354AlafsTer15
NM_004415.4:c.1060_1061del MANE Select	NP_004406.2:p.Leu354AlafsTer15
NM_001008844.3:c.1060_1061del	NP_001008844.1:p.Leu354AlafsTer15
NM_001319034.2:c.1060_1061del	NP_001305963.1:p.Leu354AlafsTer15