Canonical Allele Identifier: CA658820675

Gene: DSP

Linked Data

• ClinVar Variation Id: 941804
• ClinVar RCV Id: RCV001211659
• dbSNP Id: rs1759580297
• gnomAD v4: 6-7584825-TAGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584829_7584832del , CM000668.2:g.7584829_7584832del	GRCh38
NC_000006.11:g.7585062_7585065del , CM000668.1:g.7585062_7585065del	GRCh37
NC_000006.10:g.7530061_7530064del	NCBI36
NG_008803.1:g.48193_48196del , LRG_423:g.48193_48196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6238_6241del	ENSP00000518230.1:p.Lys2080GlnfsTer?
ENST00000379802.8:c.7567_7570del MANE Select	ENSP00000369129.3:p.Lys2523GlnfsTer?
ENST00000379802.7:c.7567_7570del	ENSP00000369129.3:p.Lys2523GlnfsTer?
ENST00000418664.2:c.5770_5773del	ENSP00000396591.2:p.Lys1924GlnfsTer?
NM_001008844.1:c.5770_5773del	NP_001008844.1:p.Lys1924GlnfsTer?
NM_004415.2:c.7567_7570del , LRG_423t1:c.7567_7570del	NP_004406.2:p.Lys2523GlnfsTer?
XM_011514323.1:c.6238_6241del	XP_011512625.1:p.Lys2080GlnfsTer?
NM_001008844.2:c.5770_5773del	NP_001008844.1:p.Lys1924GlnfsTer?
NM_001319034.1:c.6238_6241del	NP_001305963.1:p.Lys2080GlnfsTer?
NM_004415.3:c.7567_7570del	NP_004406.2:p.Lys2523GlnfsTer?
NM_004415.4:c.7567_7570del MANE Select	NP_004406.2:p.Lys2523GlnfsTer?
NM_001008844.3:c.5770_5773del	NP_001008844.1:p.Lys1924GlnfsTer?
NM_001319034.2:c.6238_6241del	NP_001305963.1:p.Lys2080GlnfsTer?