Canonical Allele Identifier: CA658821530

Gene: DSP

Linked Data

• ClinVar Variation Id: 560379
• ClinVar RCV Id: RCV000678479 ; RCV001381245 ; RCV002388187 ; RCV002462014
• dbSNP Id: rs1561703922
• MyVariant Identifiers: chr6:g.7585065_7585068del (hg19) ; chr6:g.7584832_7584835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584832_7584835del , CM000668.2:g.7584832_7584835del	GRCh38
NC_000006.11:g.7585065_7585068del , CM000668.1:g.7585065_7585068del	GRCh37
NC_000006.10:g.7530064_7530067del	NCBI36
NG_008803.1:g.48196_48199del , LRG_423:g.48196_48199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6241_6244del	ENSP00000518230.1:p.Thr2081AlafsTer?
ENST00000379802.8:c.7570_7573del MANE Select	ENSP00000369129.3:p.Thr2524AlafsTer?
ENST00000379802.7:c.7570_7573del	ENSP00000369129.3:p.Thr2524AlafsTer?
ENST00000418664.2:c.5773_5776del	ENSP00000396591.2:p.Thr1925AlafsTer?
NM_001008844.1:c.5773_5776del	NP_001008844.1:p.Thr1925AlafsTer?
NM_004415.2:c.7570_7573del , LRG_423t1:c.7570_7573del	NP_004406.2:p.Thr2524AlafsTer?
XM_011514323.1:c.6241_6244del	XP_011512625.1:p.Thr2081AlafsTer?
NM_001008844.2:c.5773_5776del	NP_001008844.1:p.Thr1925AlafsTer?
NM_001319034.1:c.6241_6244del	NP_001305963.1:p.Thr2081AlafsTer?
NM_004415.3:c.7570_7573del	NP_004406.2:p.Thr2524AlafsTer?
NM_004415.4:c.7570_7573del MANE Select	NP_004406.2:p.Thr2524AlafsTer?
NM_001008844.3:c.5773_5776del	NP_001008844.1:p.Thr1925AlafsTer?
NM_001319034.2:c.6241_6244del	NP_001305963.1:p.Thr2081AlafsTer?