Canonical Allele Identifier: CA1064026448

Gene: ADAMTS3

Linked Data

• gnomAD v3: 4-72314010-A-ATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 4-72314010-A-ATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72314016_72314017insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC , CM000666.2:g.72314016_72314017insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	GRCh38
NC_000004.11:g.73179733_73179734insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC , CM000666.1:g.73179733_73179734insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	GRCh37
NC_000004.10:g.73398597_73398598insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	NCBI36
NG_046955.1:g.259789_259790insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1600-189_1600-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA MANE Select	ENSP00000286657.4:n.1600-189_1600-188insAAAAAAAAAAAAAAAAAAAAA...
ENST00000286657.8:c.1600-189_1600-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	ENSP00000286657.4:n.1600-189_1600-188insAAAAAAAAAAAAAAAAAAAAA...
ENST00000622135.1:c.1600-189_1600-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	ENSP00000480055.1:n.1600-189_1600-188insAAAAAAAAAAAAAAAAAAAAA...
NM_014243.2:c.1600-189_1600-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	NP_055058.2:n.1600-189_1600-188insAAAAAAAAAAAAAAAAAAAAAAAAAAG...
XM_011532421.1:c.1543-189_1543-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	XP_011530723.1:n.1543-189_1543-188insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532422.1:c.1516-189_1516-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	XP_011530724.1:n.1516-189_1516-188insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532423.1:c.958-189_958-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	XP_011530725.1:n.958-189_958-188insAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532424.1:c.868-189_868-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	XP_011530726.1:n.868-189_868-188insAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532421.2:c.1543-189_1543-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	XP_011530723.1:n.1543-189_1543-188insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532422.3:c.1516-189_1516-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	XP_011530724.1:n.1516-189_1516-188insAAAAAAAAAAAAAAAAAAAAAAAA...
NM_014243.3:c.1600-189_1600-188insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA MANE Select	NP_055058.2:n.1600-189_1600-188insAAAAAAAAAAAAAAAAAAAAAAAAAAG...