Canonical Allele Identifier: CA1139659425

Gene: DSP

Linked Data

• ClinVar Variation Id: 922850
• ClinVar RCV Id: RCV001183151 ; RCV003770017
• dbSNP Id: rs1759606062

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585180_7585181dup , CM000668.2:g.7585180_7585181dup	GRCh38
NC_000006.11:g.7585413_7585414dup , CM000668.1:g.7585413_7585414dup	GRCh37
NC_000006.10:g.7530412_7530413dup	NCBI36
NG_008803.1:g.48544_48545dup , LRG_423:g.48544_48545dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6589_6590dup	ENSP00000518230.1:p.Ile2198AlafsTer?
ENST00000379802.8:c.7918_7919dup MANE Select	ENSP00000369129.3:p.Ile2641AlafsTer?
ENST00000379802.7:c.7918_7919dup	ENSP00000369129.3:p.Ile2641AlafsTer?
ENST00000418664.2:c.6121_6122dup	ENSP00000396591.2:p.Ile2042AlafsTer?
NM_001008844.1:c.6121_6122dup	NP_001008844.1:p.Ile2042AlafsTer?
NM_004415.2:c.7918_7919dup , LRG_423t1:c.7918_7919dup	NP_004406.2:p.Ile2641AlafsTer?
XM_011514323.1:c.6589_6590dup	XP_011512625.1:p.Ile2198AlafsTer?
NM_001008844.2:c.6121_6122dup	NP_001008844.1:p.Ile2042AlafsTer?
NM_001319034.1:c.6589_6590dup	NP_001305963.1:p.Ile2198AlafsTer?
NM_004415.3:c.7918_7919dup	NP_004406.2:p.Ile2641AlafsTer?
NM_004415.4:c.7918_7919dup MANE Select	NP_004406.2:p.Ile2641AlafsTer?
NM_001008844.3:c.6121_6122dup	NP_001008844.1:p.Ile2042AlafsTer?
NM_001319034.2:c.6589_6590dup	NP_001305963.1:p.Ile2198AlafsTer?