Canonical Allele Identifier: CA1064026241

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1719300405
• gnomAD v3: 4-72313487-CACTG-C
• gnomAD v4: 4-72313487-CACTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313492_72313495del , CM000666.2:g.72313492_72313495del	GRCh38
NC_000004.11:g.73179209_73179212del , CM000666.1:g.73179209_73179212del	GRCh37
NC_000004.10:g.73398073_73398076del	NCBI36
NG_046955.1:g.260309_260312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1745+186_1745+189del MANE Select	ENSP00000286657.4:n.1745+186_1745+189del
ENST00000286657.8:c.1745+186_1745+189del	ENSP00000286657.4:n.1745+186_1745+189del
ENST00000622135.1:c.1745+186_1745+189del	ENSP00000480055.1:n.1745+186_1745+189del
NM_014243.2:c.1745+186_1745+189del	NP_055058.2:n.1745+186_1745+189del
XM_011532421.1:c.1688+186_1688+189del	XP_011530723.1:n.1688+186_1688+189del
XM_011532422.1:c.1661+186_1661+189del	XP_011530724.1:n.1661+186_1661+189del
XM_011532423.1:c.1103+186_1103+189del	XP_011530725.1:n.1103+186_1103+189del
XM_011532424.1:c.1013+186_1013+189del	XP_011530726.1:n.1013+186_1013+189del
XM_011532421.2:c.1688+186_1688+189del	XP_011530723.1:n.1688+186_1688+189del
XM_011532422.3:c.1661+186_1661+189del	XP_011530724.1:n.1661+186_1661+189del
NM_014243.3:c.1745+186_1745+189del MANE Select	NP_055058.2:n.1745+186_1745+189del