Canonical Allele Identifier: CA1064026438

Gene: ADAMTS3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72314016_72314017insTTTTTTTTTTTTTTTTATTATTATACTCTATTTTTC , CM000666.2:g.72314016_72314017insTTTTTTTTTTTTTTTTATTATTATACTCTATTTTTC	GRCh38
NC_000004.11:g.73179733_73179734insTTTTTTTTTTTTTTTTATTATTATACTCTATTTTTC , CM000666.1:g.73179733_73179734insTTTTTTTTTTTTTTTTATTATTATACTCTATTTTTC	GRCh37
NC_000004.10:g.73398597_73398598insTTTTTTTTTTTTTTTTATTATTATACTCTATTTTTC	NCBI36
NG_046955.1:g.259791_259792insGAGTATAATAATAAAAAAAAAAAAAAAAGAAAAATA

Transcript Alleles

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