Canonical Allele Identifier: CA2575846159

Gene: ADAMTS17

Linked Data

• ClinVar Variation Id: 2849004
• ClinVar RCV Id: RCV003695518
• gnomAD v4: 15-100132000-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132000G>T , CM000677.2:g.100132000G>T	GRCh38
NC_000015.9:g.100672205G>T , CM000677.1:g.100672205G>T	GRCh37
NC_000015.8:g.98489728G>T	NCBI36
NG_016287.1:g.214979C>A
NG_016287.2:g.214979C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1721+7C>A MANE Select	ENSP00000268070.4:n.1721+7C>A
ENST00000568565.2:c.1721+7C>A	ENSP00000456161.2:n.1721+7C>A
ENST00000268070.8:c.1721+7C>A	ENSP00000268070.4:n.1721+7C>A
ENST00000378898.8:n.1402+7C>A
NM_139057.2:c.1721+7C>A	NP_620688.2:n.1721+7C>A
XM_005254872.2:c.1721+7C>A	XP_005254929.1:n.1721+7C>A
XM_011521312.1:c.1721+7C>A	XP_011519614.1:n.1721+7C>A
NM_139057.3:c.1721+7C>A	NP_620688.2:n.1721+7C>A
XM_005254872.3:c.1721+7C>A	XP_005254929.1:n.1721+7C>A
XM_011521312.2:c.1721+7C>A	XP_011519614.1:n.1721+7C>A
XM_017021973.2:c.1853+7C>A	XP_016877462.1:n.1853+7C>A
XM_017021974.1:c.1853+7C>A	XP_016877463.1:n.1853+7C>A
XM_017021975.1:c.1853+7C>A	XP_016877464.1:n.1853+7C>A
XM_017021976.1:c.1124+7C>A	XP_016877465.1:n.1124+7C>A
XM_017021977.1:c.1853+7C>A	XP_016877466.1:n.1853+7C>A
XM_017021978.1:c.755+7C>A	XP_016877467.1:n.755+7C>A
XM_017021979.1:c.533+7C>A	XP_016877468.1:n.533+7C>A
XM_017021980.1:c.533+7C>A	XP_016877469.1:n.533+7C>A
XM_017021981.1:c.1853+7C>A	XP_016877470.1:n.1853+7C>A
XM_017021982.1:c.242+7C>A	XP_016877471.1:n.242+7C>A
XM_017021983.1:c.27-14987C>A	XP_016877472.1:n.27-14987C>A
XM_017021984.1:c.992+7C>A	XP_016877473.1:n.992+7C>A
XR_001751118.1:n.2875+7C>A
XR_001751119.1:n.2875+7C>A
XR_001751120.1:n.2875+7C>A
NM_139057.4:c.1721+7C>A MANE Select	NP_620688.2:n.1721+7C>A