Canonical Allele Identifier: CA623592040

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs1404437534
• gnomAD v2: 16-77427465-TTATA-T
• gnomAD v3: 16-77393568-TTATA-T
• gnomAD v4: 16-77393568-TTATA-T
• MyVariant Identifiers: chr16:g.77427466_77427469del (hg19) ; chr16:g.77393569_77393572del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77393569_77393572del , CM000678.2:g.77393569_77393572del	GRCh38
NC_000016.9:g.77427466_77427469del , CM000678.1:g.77427466_77427469del	GRCh37
NC_000016.8:g.75984967_75984970del	NCBI36
NG_031879.1:g.46543_46546del
NG_031879.2:g.46543_46546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.496-25849_496-25846del MANE Select	ENSP00000282849.5:n.496-25849_496-25846del
ENST00000282849.9:c.496-25849_496-25846del	ENSP00000282849.5:n.496-25849_496-25846del
ENST00000449265.2:c.496-25849_496-25846del	ENSP00000392540.2:n.496-25849_496-25846del
ENST00000562345.1:c.294-25903_294-25900del
ENST00000564369.1:n.422-25849_422-25846del
ENST00000567121.5:n.353-25849_353-25846del
ENST00000567914.1:n.340-25849_340-25846del
ENST00000569309.1:n.453-14593_453-14590del
NM_199355.2:c.496-25849_496-25846del	NP_955387.1:n.496-25849_496-25846del
XM_011522923.1:c.-25-25849_-25-25846del	XP_011521225.1:n.-25-25849_-25-25846del
XM_011522924.1:c.-25-25849_-25-25846del	XP_011521226.1:n.-25-25849_-25-25846del
NM_001326358.1:c.-25-25849_-25-25846del	NP_001313287.1:n.-25-25849_-25-25846del
NM_199355.3:c.496-25849_496-25846del	NP_955387.1:n.496-25849_496-25846del
XM_011522924.2:c.-25-25849_-25-25846del	XP_011521226.1:n.-25-25849_-25-25846del
XM_017022988.2:c.-585-25849_-585-25846del	XP_016878477.1:n.-585-25849_-585-25846del
XM_017022989.1:c.-581-25849_-581-25846del	XP_016878478.1:n.-581-25849_-581-25846del
NM_199355.4:c.496-25849_496-25846del MANE Select	NP_955387.1:n.496-25849_496-25846del
NM_001326358.2:c.-25-25849_-25-25846del	NP_001313287.1:n.-25-25849_-25-25846del