Canonical Allele Identifier: CA552478875

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1376324839
• gnomAD v2: 4-73179365-AATAACAAGAGTTACAAGG-A
• gnomAD v4: 4-72313648-AATAACAAGAGTTACAAGG-A
• MyVariant Identifiers: chr4:g.73179366_73179383del (hg19) ; chr4:g.72313649_72313666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313652_72313669del , CM000666.2:g.72313652_72313669del	GRCh38
NC_000004.11:g.73179369_73179386del , CM000666.1:g.73179369_73179386del	GRCh37
NC_000004.10:g.73398233_73398250del	NCBI36
NG_046955.1:g.260134_260151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1745+11_1745+28del MANE Select	ENSP00000286657.4:n.1745+11_1745+28del
ENST00000286657.8:c.1745+11_1745+28del	ENSP00000286657.4:n.1745+11_1745+28del
ENST00000622135.1:c.1745+11_1745+28del	ENSP00000480055.1:n.1745+11_1745+28del
NM_014243.2:c.1745+11_1745+28del	NP_055058.2:n.1745+11_1745+28del
XM_011532421.1:c.1688+11_1688+28del	XP_011530723.1:n.1688+11_1688+28del
XM_011532422.1:c.1661+11_1661+28del	XP_011530724.1:n.1661+11_1661+28del
XM_011532423.1:c.1103+11_1103+28del	XP_011530725.1:n.1103+11_1103+28del
XM_011532424.1:c.1013+11_1013+28del	XP_011530726.1:n.1013+11_1013+28del
XM_011532421.2:c.1688+11_1688+28del	XP_011530723.1:n.1688+11_1688+28del
XM_011532422.3:c.1661+11_1661+28del	XP_011530724.1:n.1661+11_1661+28del
NM_014243.3:c.1745+11_1745+28del MANE Select	NP_055058.2:n.1745+11_1745+28del