Canonical Allele Identifier: CA052825

Gene: DSP

Linked Data

• ClinVar Variation Id: 661710
• ClinVar RCV Id: RCV000819189
• dbSNP Id: rs765683790
• ExAC: 6:7586076 TC / T
• gnomAD v2: 6-7586076-TC-T
• gnomAD v4: 6-7585843-TC-T
• MyVariant Identifiers: chr6:g.7586077del (hg19) ; chr6:g.7585844del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585845del , CM000668.2:g.7585845del	GRCh38
NC_000006.11:g.7586078del , CM000668.1:g.7586078del	GRCh37
NC_000006.10:g.7531077del	NCBI36
NG_008803.1:g.49209del , LRG_423:g.49209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7254del	ENSP00000518230.1:p.Tyr2419ThrfsTer21
ENST00000379802.8:c.8583del MANE Select	ENSP00000369129.3:p.Tyr2862ThrfsTer21
ENST00000379802.7:c.8583del	ENSP00000369129.3:p.Tyr2862ThrfsTer21
ENST00000418664.2:c.6786del	ENSP00000396591.2:p.Tyr2263ThrfsTer21
NM_001008844.1:c.6786del	NP_001008844.1:p.Tyr2263ThrfsTer21
NM_004415.2:c.8583del , LRG_423t1:c.8583del	NP_004406.2:p.Tyr2862ThrfsTer21
XM_011514323.1:c.7254del	XP_011512625.1:p.Tyr2419ThrfsTer21
NM_001008844.2:c.6786del	NP_001008844.1:p.Tyr2263ThrfsTer21
NM_001319034.1:c.7254del	NP_001305963.1:p.Tyr2419ThrfsTer21
NM_004415.3:c.8583del	NP_004406.2:p.Tyr2862ThrfsTer21
NM_004415.4:c.8583del MANE Select	NP_004406.2:p.Tyr2862ThrfsTer21
NM_001008844.3:c.6786del	NP_001008844.1:p.Tyr2263ThrfsTer21
NM_001319034.2:c.7254del	NP_001305963.1:p.Tyr2419ThrfsTer21