Canonical Allele Identifier: CA620093111

Gene: ADAMTS17

Linked Data

• dbSNP Id: rs1415787785
• gnomAD v2: 15-100513260-CTAGGGTCCCTGCCCGGCCTCCTTGCAGG-C
• gnomAD v3: 15-99973055-CTAGGGTCCCTGCCCGGCCTCCTTGCAGG-C
• gnomAD v4: 15-99973055-CTAGGGTCCCTGCCCGGCCTCCTTGCAGG-C
• MyVariant Identifiers: chr15:g.100513261_100513288del (hg19) ; chr15:g.99973056_99973083del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.99973062_99973089del , CM000677.2:g.99973062_99973089del	GRCh38
NC_000015.9:g.100513267_100513294del , CM000677.1:g.100513267_100513294del	GRCh37
NC_000015.8:g.98330790_98330817del	NCBI36
NG_016287.1:g.373896_373923del
NG_016287.2:g.373896_373923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.*1319_*1346del MANE Select	ENSP00000268070.4:n.*1319_*1346del
ENST00000268070.8:c.*1319_*1346del	ENSP00000268070.4:n.*1319_*1346del
ENST00000557896.1:n.1618_1645del
NM_139057.2:c.*1319_*1346del	NP_620688.2:n.*1319_*1346del
XM_005254872.2:c.*1319_*1346del	XP_005254929.1:n.*1319_*1346del
XM_011521312.1:c.*1319_*1346del	XP_011519614.1:n.*1319_*1346del
XR_429624.2:n.1743+329_1743+356del
NM_139057.3:c.*1319_*1346del	NP_620688.2:n.*1319_*1346del
XM_005254872.3:c.*1319_*1346del	XP_005254929.1:n.*1319_*1346del
XM_011521312.2:c.*1319_*1346del	XP_011519614.1:n.*1319_*1346del
XM_017021973.2:c.*1319_*1346del	XP_016877462.1:n.*1319_*1346del
XM_017021975.1:c.*1319_*1346del	XP_016877464.1:n.*1319_*1346del
XM_017021976.1:c.*1319_*1346del	XP_016877465.1:n.*1319_*1346del
XM_017021978.1:c.*1319_*1346del	XP_016877467.1:n.*1319_*1346del
XM_017021979.1:c.*1319_*1346del	XP_016877468.1:n.*1319_*1346del
XM_017021980.1:c.*1319_*1346del	XP_016877469.1:n.*1319_*1346del
XM_017021982.1:c.*1319_*1346del	XP_016877471.1:n.*1319_*1346del
XM_017021983.1:c.*1319_*1346del	XP_016877472.1:n.*1319_*1346del
NM_139057.4:c.*1319_*1346del MANE Select	NP_620688.2:n.*1319_*1346del