Canonical Allele Identifier: CA724129857

Gene: ADAMTS18

Linked Data

• dbSNP Id: rs1467151112
• gnomAD v3: 16-77335895-GCCGACA-G
• gnomAD v4: 16-77335895-GCCGACA-G
• MyVariant Identifiers: chr16:g.77369793_77369798del (hg19) ; chr16:g.77335896_77335901del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77335898_77335903del , CM000678.2:g.77335898_77335903del	GRCh38
NC_000016.9:g.77369795_77369800del , CM000678.1:g.77369795_77369800del	GRCh37
NC_000016.8:g.75927296_75927301del	NCBI36
NG_031879.1:g.104214_104219del
NG_031879.2:g.104214_104219del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282849.10:c.1714_1719del MANE Select	ENSP00000282849.5:p.Cys572_Arg573del
ENST00000282849.9:c.1714_1719del	ENSP00000282849.5:p.Cys572_Arg573del
NM_199355.2:c.1714_1719del	NP_955387.1:p.Cys572_Arg573del
XM_011522923.1:c.1198_1203del	XP_011521225.1:p.Cys400_Arg401del
XM_011522924.1:c.1198_1203del	XP_011521226.1:p.Cys400_Arg401del
NM_001326358.1:c.1198_1203del	NP_001313287.1:p.Cys400_Arg401del
NM_199355.3:c.1714_1719del	NP_955387.1:p.Cys572_Arg573del
XM_011522924.2:c.1198_1203del	XP_011521226.1:p.Cys400_Arg401del
XM_017022988.2:c.478_483del	XP_016878477.1:p.Cys160_Arg161del
XM_017022989.1:c.478_483del	XP_016878478.1:p.Cys160_Arg161del
NM_199355.4:c.1714_1719del MANE Select	NP_955387.1:p.Cys572_Arg573del
NM_001326358.2:c.1198_1203del	NP_001313287.1:p.Cys400_Arg401del