Canonical Allele Identifier: CA752549911

Gene: TIMP3 SYN3

Linked Data

• dbSNP Id: rs1173152195
• gnomAD v3: 22-32859587-ATCAT-A
• gnomAD v4: 22-32859587-ATCAT-A
• MyVariant Identifiers: chr22:g.33255575_33255578del (hg19) ; chr22:g.32859588_32859591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32859593_32859596del , CM000684.2:g.32859593_32859596del	GRCh38
NC_000022.10:g.33255580_33255583del , CM000684.1:g.33255580_33255583del	GRCh37
NC_000022.9:g.31585580_31585583del	NCBI36
NG_009117.1:g.63779_63782del
NG_029545.1:g.203800_203803del
NG_009117.2:g.62889_62892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266085.7:c.*216_*219del (TIMP3) MANE Select	ENSP00000266085.5:n.*216_*219del
ENST00000358763.7:c.711+5324_711+5327del (SYN3) MANE Select	ENSP00000351614.2:n.711+5324_711+5327del
ENST00000266085.6:c.*216_*219del (TIMP3)	ENSP00000266085.5:n.*216_*219del
ENST00000358763.6:c.711+5324_711+5327del (SYN3)	ENSP00000351614.2:n.711+5324_711+5327del
ENST00000462268.1:n.225+5324_225+5327del (SYN3)
NM_000362.4:c.*216_*219del (TIMP3)	NP_000353.1:n.*216_*219del
NM_001135774.1:c.708+5324_708+5327del (SYN3)	NP_001129246.1:n.708+5324_708+5327del
NM_003490.3:c.711+5324_711+5327del (SYN3)	NP_003481.3:n.711+5324_711+5327del
NM_133633.2:c.711+5324_711+5327del (SYN3)	NP_598344.2:n.711+5324_711+5327del
XM_011530405.1:c.711+5324_711+5327del (SYN3)	XP_011528707.1:n.711+5324_711+5327del
XM_011530406.1:c.711+5324_711+5327del (SYN3)	XP_011528708.1:n.711+5324_711+5327del
XM_011530407.1:c.711+5324_711+5327del (SYN3)	XP_011528709.1:n.711+5324_711+5327del
XM_011530408.1:c.711+5324_711+5327del (SYN3)	XP_011528710.1:n.711+5324_711+5327del
XM_011530409.1:c.711+5324_711+5327del (SYN3)	XP_011528711.1:n.711+5324_711+5327del
XM_011530410.1:c.357+5324_357+5327del (SYN3)	XP_011528712.1:n.357+5324_357+5327del
XM_011530411.1:c.711+5324_711+5327del (SYN3)	XP_011528713.1:n.711+5324_711+5327del
XM_011530413.1:c.711+5324_711+5327del (SYN3)	XP_011528715.1:n.711+5324_711+5327del
XM_011530414.1:c.711+5324_711+5327del (SYN3)	XP_011528716.1:n.711+5324_711+5327del
XR_937927.1:n.1195+5324_1195+5327del (SYN3)
XM_011530405.3:c.711+5324_711+5327del (SYN3)	XP_011528707.1:n.711+5324_711+5327del
XM_011530406.3:c.711+5324_711+5327del (SYN3)	XP_011528708.1:n.711+5324_711+5327del
XM_011530407.3:c.711+5324_711+5327del (SYN3)	XP_011528709.1:n.711+5324_711+5327del
XM_011530408.2:c.711+5324_711+5327del (SYN3)	XP_011528710.1:n.711+5324_711+5327del
XM_011530410.3:c.357+5324_357+5327del (SYN3)	XP_011528712.1:n.357+5324_357+5327del
XM_017028961.2:c.711+5324_711+5327del (SYN3)	XP_016884450.1:n.711+5324_711+5327del
XM_017028962.2:c.711+5324_711+5327del (SYN3)	XP_016884451.1:n.711+5324_711+5327del
XM_017028963.2:c.711+5324_711+5327del (SYN3)	XP_016884452.1:n.711+5324_711+5327del
XM_017028964.2:c.708+5324_708+5327del (SYN3)	XP_016884453.1:n.708+5324_708+5327del
XR_001755317.2:n.948+5324_948+5327del (SYN3)
NM_000362.5:c.*216_*219del (TIMP3) MANE Select	NP_000353.1:n.*216_*219del
NM_001135774.2:c.708+5324_708+5327del (SYN3)	NP_001129246.1:n.708+5324_708+5327del
NM_001369907.1:c.711+5324_711+5327del (SYN3)	NP_001356836.1:n.711+5324_711+5327del
NM_001369908.1:c.711+5324_711+5327del (SYN3)	NP_001356837.1:n.711+5324_711+5327del
NM_001369909.1:c.708+5324_708+5327del (SYN3)	NP_001356838.1:n.708+5324_708+5327del
NM_001369910.1:c.708+5324_708+5327del (SYN3)	NP_001356839.1:n.708+5324_708+5327del
NM_003490.4:c.711+5324_711+5327del (SYN3) MANE Select	NP_003481.3:n.711+5324_711+5327del
NM_133633.3:c.711+5324_711+5327del (SYN3)	NP_598344.2:n.711+5324_711+5327del