Canonical Allele Identifier: CA282478
Gene: DSP HGNC NCBI
DSP-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36015
ClinVar RCV Id: RCV000037982 RCV000292424 RCV000389020 RCV000346732 RCV000622220 RCV000771055 RCV000845351 RCV001253578
dbSNP Id: rs17133512
ExAC: 6:7542148 C / CA
gnomAD v2: 6-7542148-C-CA
gnomAD v3: 6-7541915-C-CA
gnomAD v4: 6-7541915-C-CA
COSMIC: COSN1084048 COSN1084049 COSN20102364
MyVariant Identifiers: chr6:g.7542149dupA (hg19) chr6:g.7542148_7542149insA (hg19) chr6:g.7541916dupA (hg38) chr6:g.7541915_7541916insA (hg38)
PubMed: PMID:10395892 PMID:12373648 PMID:18632414 PMID:22214898 PMID:23861362
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541916dup , CM000668.2:g.7541916dup GRCh38
NC_000006.11:g.7542149dup , CM000668.1:g.7542149dup GRCh37
NC_000006.10:g.7487148dup NCBI36
NG_008803.1:g.5280dup , LRG_423:g.5280dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000683682.2:c.1dup (DSP) ENSP00000508162.2:p.Met1AsnfsTer?
ENST00000710359.1:c.1dup (DSP) ENSP00000518230.1:p.Met1AsnfsTer?
ENST00000379802.8:c.1dup (DSP) MANE Select ENSP00000369129.3:p.Met1AsnfsTer?
ENST00000379802.7:c.1dup (DSP) ENSP00000369129.3:p.Met1AsnfsTer?
ENST00000418664.2:c.1dup (DSP) ENSP00000396591.2:p.Met1AsnfsTer?
NM_001008844.1:c.1dup (DSP) NP_001008844.1:p.Met1AsnfsTer?
NM_004415.2:c.1dup , LRG_423t1:c.1dup (DSP) NP_004406.2:p.Met1AsnfsTer?
XM_011514323.1:c.1dup (DSP) XP_011512625.1:p.Met1AsnfsTer?
XR_241971.2:n.268+855dup (DSP-AS1)
NM_001008844.2:c.1dup (DSP) NP_001008844.1:p.Met1AsnfsTer?
NM_001319034.1:c.1dup (DSP) NP_001305963.1:p.Met1AsnfsTer?
NM_004415.3:c.1dup (DSP) NP_004406.2:p.Met1AsnfsTer?
XR_241971.3:n.269+855dup (DSP-AS1)
NM_004415.4:c.1dup (DSP) MANE Select NP_004406.2:p.Met1AsnfsTer?
NM_001008844.3:c.1dup (DSP) NP_001008844.1:p.Met1AsnfsTer?
NM_001319034.2:c.1dup (DSP) NP_001305963.1:p.Met1AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'