Canonical Allele Identifier: CA979261307

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs2057255987
• gnomAD v3: 16-77396291-CTG-C
• gnomAD v4: 16-77396291-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77396295_77396296del , CM000678.2:g.77396295_77396296del	GRCh38
NC_000016.9:g.77430192_77430193del , CM000678.1:g.77430192_77430193del	GRCh37
NC_000016.8:g.75987693_75987694del	NCBI36
NG_031879.1:g.43822_43823del
NG_031879.2:g.43822_43823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.496-28570_496-28569del MANE Select	ENSP00000282849.5:n.496-28570_496-28569del
ENST00000282849.9:c.496-28570_496-28569del	ENSP00000282849.5:n.496-28570_496-28569del
ENST00000449265.2:c.496-28570_496-28569del	ENSP00000392540.2:n.496-28570_496-28569del
ENST00000562345.1:c.294-28624_294-28623del
ENST00000564369.1:n.422-28570_422-28569del
ENST00000567121.5:n.353-28570_353-28569del
ENST00000567914.1:n.340-28570_340-28569del
ENST00000569309.1:n.453-17314_453-17313del
NM_199355.2:c.496-28570_496-28569del	NP_955387.1:n.496-28570_496-28569del
XM_011522923.1:c.-25-28570_-25-28569del	XP_011521225.1:n.-25-28570_-25-28569del
XM_011522924.1:c.-25-28570_-25-28569del	XP_011521226.1:n.-25-28570_-25-28569del
NM_001326358.1:c.-25-28570_-25-28569del	NP_001313287.1:n.-25-28570_-25-28569del
NM_199355.3:c.496-28570_496-28569del	NP_955387.1:n.496-28570_496-28569del
XM_011522924.2:c.-25-28570_-25-28569del	XP_011521226.1:n.-25-28570_-25-28569del
XM_017022988.2:c.-585-28570_-585-28569del	XP_016878477.1:n.-585-28570_-585-28569del
XM_017022989.1:c.-581-28570_-581-28569del	XP_016878478.1:n.-581-28570_-581-28569del
NM_199355.4:c.496-28570_496-28569del MANE Select	NP_955387.1:n.496-28570_496-28569del
NM_001326358.2:c.-25-28570_-25-28569del	NP_001313287.1:n.-25-28570_-25-28569del