Canonical Allele Identifier: CA1064026451

Gene: ADAMTS3

Linked Data

• gnomAD v3: 4-72314016-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 4-72314016-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72314016_72314017insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000666.2:g.72314016_72314017insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000004.11:g.73179733_73179734insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000666.1:g.73179733_73179734insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000004.10:g.73398597_73398598insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_046955.1:g.259783_259784insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1600-195_1600-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000286657.4:n.1600-195_1600-194insAAAAAAAAAAAAAAAAAAAAA...
ENST00000286657.8:c.1600-195_1600-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000286657.4:n.1600-195_1600-194insAAAAAAAAAAAAAAAAAAAAA...
ENST00000622135.1:c.1600-195_1600-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000480055.1:n.1600-195_1600-194insAAAAAAAAAAAAAAAAAAAAA...
NM_014243.2:c.1600-195_1600-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_055058.2:n.1600-195_1600-194insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532421.1:c.1543-195_1543-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011530723.1:n.1543-195_1543-194insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532422.1:c.1516-195_1516-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011530724.1:n.1516-195_1516-194insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532423.1:c.958-195_958-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011530725.1:n.958-195_958-194insAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532424.1:c.868-195_868-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011530726.1:n.868-195_868-194insAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532421.2:c.1543-195_1543-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011530723.1:n.1543-195_1543-194insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532422.3:c.1516-195_1516-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011530724.1:n.1516-195_1516-194insAAAAAAAAAAAAAAAAAAAAAAAA...
NM_014243.3:c.1600-195_1600-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_055058.2:n.1600-195_1600-194insAAAAAAAAAAAAAAAAAAAAAAAAAAA...