Canonical Allele Identifier: CA552859212
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1560477044
gnomAD v2: 4-88532038-GATT-G
gnomAD v4: 4-87610886-GATT-G
MyVariant Identifiers: chr4:g.88532039_88532041del (hg19) chr4:g.87610887_87610889del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610896_87610898del , CM000666.2:g.87610896_87610898del GRCh38
NC_000004.11:g.88532048_88532050del , CM000666.1:g.88532048_88532050del GRCh37
NC_000004.10:g.88751072_88751074del NCBI36
NG_011595.1:g.7368_7370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.-13_-11del MANE Select ENSP00000498766.1:n.-13_-11del
ENST00000282478.7:c.-13_-11del ENSP00000282478.7:n.-13_-11del
ENST00000399271.5:c.-13_-11del ENSP00000382213.1:n.-13_-11del
NM_014208.3:c.-13_-11del MANE Select NP_055023.2:n.-13_-11del
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