Canonical Allele Identifier: CA2600157744

Gene: ADAMTS3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72314016_72314017insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTGTG , CM000666.2:g.72314016_72314017insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTGTG	GRCh38
NC_000004.11:g.73179733_73179734insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTGTG , CM000666.1:g.73179733_73179734insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTGTG	GRCh37
NC_000004.10:g.73398597_73398598insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTGTG	NCBI36
NG_046955.1:g.259783_259784insCACACATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

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