Canonical Allele Identifier: CA100849067
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 1244325
ClinVar RCV Id: RCV001648590
dbSNP Id: rs36228864
gnomAD v2: 4-88533163-T-TTG
gnomAD v3: 4-87612011-T-TTG
gnomAD v4: 4-87612011-T-TTG
MyVariant Identifiers: chr4:g.88533173_88533174insTG (hg19) chr4:g.88533163_88533164insTG (hg19) chr4:g.87612021_87612022insTG (hg38) chr4:g.87612011_87612012insTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612040_87612041dup , CM000666.2:g.87612040_87612041dup GRCh38
NC_000004.11:g.88533192_88533193dup , CM000666.1:g.88533192_88533193dup GRCh37
NC_000004.10:g.88752216_88752217dup NCBI36
NG_011595.1:g.8512_8513dup

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.52-65_52-64dup MANE Select ENSP00000498766.1:n.52-65_52-64dup
ENST00000282478.7:c.52-65_52-64dup ENSP00000282478.7:n.52-65_52-64dup
ENST00000399271.5:c.52-65_52-64dup ENSP00000382213.1:n.52-65_52-64dup
NM_014208.3:c.52-65_52-64dup MANE Select NP_055023.2:n.52-65_52-64dup
Search 100 bp 5'
Search 100 bp 3'