Canonical Allele Identifier: CA1064026427

Gene: ADAMTS3

Linked Data

• gnomAD v3: 4-72314008-G-GTATTTTTCTTTTTTTTTTTTTTTTTTTTATACTC
• gnomAD v4: 4-72314008-G-GTATTTTTCTTTTTTTTTTTTTTTTTTTTATACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72314016_72314017insTTTTTTTTTTTTTTTTTTTTATACTCTATTTTTC , CM000666.2:g.72314016_72314017insTTTTTTTTTTTTTTTTTTTTATACTCTATTTTTC	GRCh38
NC_000004.11:g.73179733_73179734insTTTTTTTTTTTTTTTTTTTTATACTCTATTTTTC , CM000666.1:g.73179733_73179734insTTTTTTTTTTTTTTTTTTTTATACTCTATTTTTC	GRCh37
NC_000004.10:g.73398597_73398598insTTTTTTTTTTTTTTTTTTTTATACTCTATTTTTC	NCBI36
NG_046955.1:g.259791_259792insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1600-187_1600-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA MANE Select	ENSP00000286657.4:n.1600-187_1600-186insGAGTATAAAAAAAAAAAAAAA...
ENST00000286657.8:c.1600-187_1600-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA	ENSP00000286657.4:n.1600-187_1600-186insGAGTATAAAAAAAAAAAAAAA...
ENST00000622135.1:c.1600-187_1600-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA	ENSP00000480055.1:n.1600-187_1600-186insGAGTATAAAAAAAAAAAAAAA...
NM_014243.2:c.1600-187_1600-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA	NP_055058.2:n.1600-187_1600-186insGAGTATAAAAAAAAAAAAAAAAAAAAG...
XM_011532421.1:c.1543-187_1543-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA	XP_011530723.1:n.1543-187_1543-186insGAGTATAAAAAAAAAAAAAAAAAA...
XM_011532422.1:c.1516-187_1516-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA	XP_011530724.1:n.1516-187_1516-186insGAGTATAAAAAAAAAAAAAAAAAA...
XM_011532423.1:c.958-187_958-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA	XP_011530725.1:n.958-187_958-186insGAGTATAAAAAAAAAAAAAAAAAAAA...
XM_011532424.1:c.868-187_868-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA	XP_011530726.1:n.868-187_868-186insGAGTATAAAAAAAAAAAAAAAAAAAA...
XM_011532421.2:c.1543-187_1543-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA	XP_011530723.1:n.1543-187_1543-186insGAGTATAAAAAAAAAAAAAAAAAA...
XM_011532422.3:c.1516-187_1516-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA	XP_011530724.1:n.1516-187_1516-186insGAGTATAAAAAAAAAAAAAAAAAA...
NM_014243.3:c.1600-187_1600-186insGAGTATAAAAAAAAAAAAAAAAAAAAGAAAAATA MANE Select	NP_055058.2:n.1600-187_1600-186insGAGTATAAAAAAAAAAAAAAAAAAAAG...