Canonical Allele Identifier: CA2671358388
Gene: DSPP HGNC NCBI

Linked Data

gnomAD v4: 4-87612446-AAGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612449_87612451del , CM000666.2:g.87612449_87612451del GRCh38
NC_000004.11:g.88533601_88533603del , CM000666.1:g.88533601_88533603del GRCh37
NC_000004.10:g.88752625_88752627del NCBI36
NG_011595.1:g.8921_8923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.263_265del MANE Select ENSP00000498766.1:p.Val88del
ENST00000282478.7:c.263_265del ENSP00000282478.7:p.Val88del
ENST00000399271.5:c.263_265del ENSP00000382213.1:p.Val88del
NM_014208.3:c.263_265del MANE Select NP_055023.2:p.Val88del
Search 100 bp 5'
Search 100 bp 3'