Canonical Allele Identifier: CA1467599748

Gene: ADAMTS3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313648_72313666delinsAATAACAAGAGTTACAAGG , CM000666.2:g.72313648_72313666delinsAATAACAAGAGTTACAAGG	GRCh38
NC_000004.11:g.73179365_73179383delinsAATAACAAGAGTTACAAGG , CM000666.1:g.73179365_73179383delinsAATAACAAGAGTTACAAGG	GRCh37
NC_000004.10:g.73398229_73398247delinsAATAACAAGAGTTACAAGG	NCBI36
NG_046955.1:g.260134_260152delinsCCTTGTAACTCTTGTTATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000286657.10:c.1745+11_1745+29delinsCCTTGTAACTCTTGTTATT MANE Select	ENSP00000286657.4:n.1745+11_1745+29delins...
ENST00000286657.8:c.1745+11_1745+29delinsCCTTGTAACTCTTGTTATT	ENSP00000286657.4:n.1745+11_1745+29delins...
ENST00000622135.1:c.1745+11_1745+29delinsCCTTGTAACTCTTGTTATT	ENSP00000480055.1:n.1745+11_1745+29delins...
NM_014243.2:c.1745+11_1745+29delinsCCTTGTAACTCTTGTTATT	NP_055058.2:n.1745+11_1745+29delinsCCTTGT...
XM_011532421.1:c.1688+11_1688+29delinsCCTTGTAACTCTTGTTATT	XP_011530723.1:n.1688+11_1688+29delinsCCT...
XM_011532422.1:c.1661+11_1661+29delinsCCTTGTAACTCTTGTTATT	XP_011530724.1:n.1661+11_1661+29delinsCCT...
XM_011532423.1:c.1103+11_1103+29delinsCCTTGTAACTCTTGTTATT	XP_011530725.1:n.1103+11_1103+29delinsCCT...
XM_011532424.1:c.1013+11_1013+29delinsCCTTGTAACTCTTGTTATT	XP_011530726.1:n.1013+11_1013+29delinsCCT...
XM_011532421.2:c.1688+11_1688+29delinsCCTTGTAACTCTTGTTATT	XP_011530723.1:n.1688+11_1688+29delinsCCT...
XM_011532422.3:c.1661+11_1661+29delinsCCTTGTAACTCTTGTTATT	XP_011530724.1:n.1661+11_1661+29delinsCCT...
NM_014243.3:c.1745+11_1745+29delinsCCTTGTAACTCTTGTTATT MANE Select	NP_055058.2:n.1745+11_1745+29delinsCCTTGT...