Canonical Allele Identifier: CA2580075513

Gene: DSP

Linked Data

• ClinVar Variation Id: 2453238
• ClinVar RCV Id: RCV003182693

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583091_7583094del , CM000668.2:g.7583091_7583094del	GRCh38
NC_000006.11:g.7583324_7583327del , CM000668.1:g.7583324_7583327del	GRCh37
NC_000006.10:g.7528323_7528326del	NCBI36
NG_008803.1:g.46455_46458del , LRG_423:g.46455_46458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4500_4503del	ENSP00000518230.1:p.Arg1500SerfsTer28
ENST00000379802.8:c.5829_5832del MANE Select	ENSP00000369129.3:p.Arg1943SerfsTer28
ENST00000379802.7:c.5829_5832del	ENSP00000369129.3:p.Arg1943SerfsTer28
ENST00000418664.2:c.4032_4035del	ENSP00000396591.2:p.Arg1344SerfsTer28
NM_001008844.1:c.4032_4035del	NP_001008844.1:p.Arg1344SerfsTer28
NM_004415.2:c.5829_5832del , LRG_423t1:c.5829_5832del	NP_004406.2:p.Arg1943SerfsTer28
XM_011514323.1:c.4500_4503del	XP_011512625.1:p.Arg1500SerfsTer28
NM_001008844.2:c.4032_4035del	NP_001008844.1:p.Arg1344SerfsTer28
NM_001319034.1:c.4500_4503del	NP_001305963.1:p.Arg1500SerfsTer28
NM_004415.3:c.5829_5832del	NP_004406.2:p.Arg1943SerfsTer28
NM_004415.4:c.5829_5832del MANE Select	NP_004406.2:p.Arg1943SerfsTer28
NM_001008844.3:c.4032_4035del	NP_001008844.1:p.Arg1344SerfsTer28
NM_001319034.2:c.4500_4503del	NP_001305963.1:p.Arg1500SerfsTer28