Canonical Allele Identifier: CA8372181

Gene: CTC1

Linked Data

• dbSNP Id: rs750523831
• ExAC: 17:8135638 T / TC
• gnomAD v2: 17-8135638-T-TC
• gnomAD v3: 17-8232320-T-TC
• gnomAD v4: 17-8232320-T-TC
• MyVariant Identifiers: chr17:g.8135644_8135645insC (hg19) ; chr17:g.8135639_8135640insC (hg19) ; chr17:g.8135638_8135639insC (hg19) ; chr17:g.8232326_8232327insC (hg38) ; chr17:g.8232320_8232321insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232326dup , CM000679.2:g.8232326dup	GRCh38
NC_000017.10:g.8135644dup , CM000679.1:g.8135644dup	GRCh37
NC_000017.9:g.8076369dup	NCBI36
NG_032148.1:g.20775dup
NG_032148.2:g.20775dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2060+40dup	ENSP00000462607.2:n.2060+40dup
ENST00000581729.2:c.2060+40dup	ENSP00000462720.2:n.2060+40dup
ENST00000581967.2:n.2512+40dup
ENST00000583254.2:n.2766+40dup
ENST00000699849.1:c.1163+40dup	ENSP00000514647.1:n.1163+40dup
ENST00000699850.1:n.1323+40dup
ENST00000699851.1:n.2082+40dup
ENST00000699852.1:c.*736+40dup	ENSP00000514648.1:n.*736+40dup
ENST00000699853.1:c.2060+40dup	ENSP00000514649.1:n.2060+40dup
ENST00000699854.1:n.1853+40dup
ENST00000699855.1:n.2512+40dup
ENST00000699856.1:c.2060+40dup	ENSP00000514650.1:n.2060+40dup
ENST00000699857.1:n.2068+40dup
ENST00000699858.1:c.*673+40dup	ENSP00000514651.1:n.*673+40dup
ENST00000699859.1:c.1931+40dup	ENSP00000514652.1:n.1931+40dup
ENST00000699860.1:n.166+40dup
ENST00000699861.1:n.2082+40dup
ENST00000699862.1:n.3020+40dup
ENST00000449476.7:c.1955+40dup	ENSP00000396018.2:n.1955+40dup
ENST00000581671.2:n.2049+40dup
ENST00000643543.1:c.*767+40dup	ENSP00000494323.1:n.*767+40dup
ENST00000651323.1:c.2060+40dup MANE Select	ENSP00000498499.1:n.2060+40dup
ENST00000315684.12:c.2060+40dup	ENSP00000313759.8:n.2060+40dup
ENST00000449476.6:c.1955+40dup	ENSP00000396018.2:n.1955+40dup
ENST00000578240.1:n.288+40dup
NM_025099.5:c.2060+40dup	NP_079375.3:n.2060+40dup
NR_046431.1:n.2014+40dup
XM_006721577.2:c.1931+40dup	XP_006721640.1:n.1931+40dup
XM_006721578.2:c.2060+40dup	XP_006721641.1:n.2060+40dup
XM_006721579.2:c.2060+40dup	XP_006721642.1:n.2060+40dup
XM_011524010.1:c.1955+40dup	XP_011522312.1:n.1955+40dup
XM_011524011.1:c.1163+40dup	XP_011522313.1:n.1163+40dup
XR_429823.2:n.2103+40dup
XR_429824.2:n.2103+40dup
XR_429825.1:n.2103+40dup
NM_025099.6:c.2060+40dup MANE Select	NP_079375.3:n.2060+40dup
XM_006721577.3:c.1931+40dup	XP_006721640.1:n.1931+40dup
XM_006721578.3:c.2060+40dup	XP_006721641.1:n.2060+40dup
XM_011524010.2:c.1955+40dup	XP_011522312.1:n.1955+40dup
XM_011524011.2:c.1163+40dup	XP_011522313.1:n.1163+40dup
XR_001752639.1:n.1974+40dup
XR_001752640.1:n.2103+40dup
XR_001752641.1:n.2103+40dup
XR_001752642.1:n.2103+40dup
XR_001752643.1:n.2533+40dup
XR_002958073.1:n.2103+40dup
XR_429823.3:n.2103+40dup
XR_429824.3:n.2103+40dup
NR_046431.2:n.1975+40dup