Canonical Allele Identifier: CA913190019

Gene: DSP

Linked Data

• ClinVar Variation Id: 632792
• ClinVar RCV Id: RCV000780220 ; RCV001552629
• dbSNP Id: rs1561701721
• gnomAD v3: 6-7583201-T-TC
• gnomAD v4: 6-7583201-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583202dup , CM000668.2:g.7583202dup	GRCh38
NC_000006.11:g.7583435dup , CM000668.1:g.7583435dup	GRCh37
NC_000006.10:g.7528434dup	NCBI36
NG_008803.1:g.46566dup , LRG_423:g.46566dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4611dup	ENSP00000518230.1:p.Tyr1538LeufsTer2
ENST00000379802.8:c.5940dup MANE Select	ENSP00000369129.3:p.Tyr1981LeufsTer2
ENST00000379802.7:c.5940dup	ENSP00000369129.3:p.Tyr1981LeufsTer2
ENST00000418664.2:c.4143dup	ENSP00000396591.2:p.Tyr1382LeufsTer2
NM_001008844.1:c.4143dup	NP_001008844.1:p.Tyr1382LeufsTer2
NM_004415.2:c.5940dup , LRG_423t1:c.5940dup	NP_004406.2:p.Tyr1981LeufsTer2
XM_011514323.1:c.4611dup	XP_011512625.1:p.Tyr1538LeufsTer2
NM_001008844.2:c.4143dup	NP_001008844.1:p.Tyr1382LeufsTer2
NM_001319034.1:c.4611dup	NP_001305963.1:p.Tyr1538LeufsTer2
NM_004415.3:c.5940dup	NP_004406.2:p.Tyr1981LeufsTer2
NM_004415.4:c.5940dup MANE Select	NP_004406.2:p.Tyr1981LeufsTer2
NM_001008844.3:c.4143dup	NP_001008844.1:p.Tyr1382LeufsTer2
NM_001319034.2:c.4611dup	NP_001305963.1:p.Tyr1538LeufsTer2