Canonical Allele Identifier: CA346315
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 180340
dbSNP Id: rs730880373

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7575408_7575410dup , CM000668.2:g.7575408_7575410dup GRCh38
NC_000006.11:g.7575641_7575643dup , CM000668.1:g.7575641_7575643dup GRCh37
NC_000006.10:g.7520640_7520642dup NCBI36
NG_008803.1:g.38772_38774dup , LRG_423:g.38772_38774dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.2550_2552dup ENSP00000518230.1:p.Leu851_Asp852insLeu
ENST00000684395.1:n.1191_1193dup
ENST00000379802.8:c.2550_2552dup MANE Select ENSP00000369129.3:p.Leu851_Asp852insLeu
ENST00000379802.7:c.2550_2552dup ENSP00000369129.3:p.Leu851_Asp852insLeu
ENST00000418664.2:c.2550_2552dup ENSP00000396591.2:p.Leu851_Asp852insLeu
NM_001008844.1:c.2550_2552dup NP_001008844.1:p.Leu851_Asp852insLeu
NM_004415.2:c.2550_2552dup , LRG_423t1:c.2550_2552dup NP_004406.2:p.Leu851_Asp852insLeu
XM_011514323.1:c.2550_2552dup XP_011512625.1:p.Leu851_Asp852insLeu
NM_001008844.2:c.2550_2552dup NP_001008844.1:p.Leu851_Asp852insLeu
NM_001319034.1:c.2550_2552dup NP_001305963.1:p.Leu851_Asp852insLeu
NM_004415.3:c.2550_2552dup NP_004406.2:p.Leu851_Asp852insLeu
NM_004415.4:c.2550_2552dup MANE Select NP_004406.2:p.Leu851_Asp852insLeu
NM_001008844.3:c.2550_2552dup NP_001008844.1:p.Leu851_Asp852insLeu
NM_001319034.2:c.2550_2552dup NP_001305963.1:p.Leu851_Asp852insLeu