Canonical Allele Identifier: CA3000882

Gene: DSPP

Linked Data

• dbSNP Id: rs751792838
• ExAC: 4:88533705 G / GAACATATGTTCATCATGGGAAAGAA
• gnomAD v2: 4-88533705-G-GAACATATGTTCATCATGGGAAAGAA
• gnomAD v3: 4-87612553-G-GAACATATGTTCATCATGGGAAAGAA
• gnomAD v4: 4-87612553-G-GAACATATGTTCATCATGGGAAAGAA
• MyVariant Identifiers: chr4:g.88533705_88533706insAACATATGTTCATCATGGGAAAGAA (hg19) ; chr4:g.87612553_87612554insAACATATGTTCATCATGGGAAAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87612553_87612554insAACATATGTTCATCATGGGAAAGAA , CM000666.2:g.87612553_87612554insAACATATGTTCATCATGGGAAAGAA	GRCh38
NC_000004.11:g.88533705_88533706insAACATATGTTCATCATGGGAAAGAA , CM000666.1:g.88533705_88533706insAACATATGTTCATCATGGGAAAGAA	GRCh37
NC_000004.10:g.88752729_88752730insAACATATGTTCATCATGGGAAAGAA	NCBI36
NG_011595.1:g.9025_9026insAACATATGTTCATCATGGGAAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651931.1:c.367_368insAACATATGTTCATCATGGGAAAGAA MANE Select	ENSP00000498766.1:p.Gly123GlufsTer30
ENST00000282478.7:c.367_368insAACATATGTTCATCATGGGAAAGAA	ENSP00000282478.7:p.Gly123GlufsTer30
ENST00000399271.5:c.367_368insAACATATGTTCATCATGGGAAAGAA	ENSP00000382213.1:p.Gly123GlufsTer30
NM_014208.3:c.367_368insAACATATGTTCATCATGGGAAAGAA MANE Select	NP_055023.2:p.Gly123GlufsTer30