Canonical Allele Identifier: CA624731931

Gene: CTC1

Linked Data

• ClinVar Variation Id: 2894033
• ClinVar RCV Id: RCV003646965
• dbSNP Id: rs1204126024
• gnomAD v2: 17-8140760-TTC-T
• gnomAD v4: 17-8237442-TTC-T
• MyVariant Identifiers: chr17:g.8140761_8140762del (hg19) ; chr17:g.8237443_8237444del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8237444_8237445del , CM000679.2:g.8237444_8237445del	GRCh38
NC_000017.10:g.8140762_8140763del , CM000679.1:g.8140762_8140763del	GRCh37
NC_000017.9:g.8081487_8081488del	NCBI36
NG_032148.1:g.15652_15653del
NG_032148.2:g.15652_15653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.723_724del	ENSP00000462607.2:p.Lys242SerfsTer9
ENST00000581729.2:c.723_724del	ENSP00000462720.2:p.Lys242SerfsTer9
ENST00000581967.2:n.745_746del
ENST00000583254.2:n.137_138del
ENST00000699849.1:c.-175_-174del	ENSP00000514647.1:n.-175_-174del
ENST00000699850.1:n.56-1102_56-1101del
ENST00000699851.1:n.745_746del
ENST00000699852.1:c.723_724del	ENSP00000514648.1:p.Lys242SerfsTer9
ENST00000699853.1:c.723_724del	ENSP00000514649.1:p.Lys242SerfsTer9
ENST00000699854.1:n.516_517del
ENST00000699855.1:n.745_746del
ENST00000699856.1:c.723_724del	ENSP00000514650.1:p.Lys242SerfsTer9
ENST00000699857.1:n.731_732del
ENST00000699858.1:c.723_724del	ENSP00000514651.1:p.Lys242SerfsTer9
ENST00000699859.1:c.723_724del	ENSP00000514652.1:p.Lys242SerfsTer9
ENST00000699861.1:n.745_746del
ENST00000699862.1:n.610_611del
ENST00000449476.7:c.648-30_648-29del	ENSP00000396018.2:n.648-30_648-29del
ENST00000581671.2:n.564_565del
ENST00000643543.1:c.723_724del	ENSP00000494323.1:p.Lys242SerfsTer9
ENST00000651323.1:c.723_724del MANE Select	ENSP00000498499.1:p.Lys242SerfsTer9
ENST00000315684.12:c.723_724del	ENSP00000313759.8:p.Lys242SerfsTer9
ENST00000449476.6:c.648-30_648-29del	ENSP00000396018.2:n.648-30_648-29del
ENST00000581671.1:n.564_565del
NM_025099.5:c.723_724del	NP_079375.3:p.Lys242SerfsTer9
NR_046431.1:n.707-30_707-29del
XM_006721577.2:c.723_724del	XP_006721640.1:p.Lys242SerfsTer9
XM_006721578.2:c.723_724del	XP_006721641.1:p.Lys242SerfsTer9
XM_006721579.2:c.723_724del	XP_006721642.1:p.Lys242SerfsTer9
XM_011524010.1:c.648-30_648-29del	XP_011522312.1:n.648-30_648-29del
XM_011524011.1:c.-179_-178del	XP_011522313.1:n.-179_-178del
XR_429823.2:n.766_767del
XR_429824.2:n.766_767del
XR_429825.1:n.766_767del
NM_025099.6:c.723_724del MANE Select	NP_079375.3:p.Lys242SerfsTer9
XM_006721577.3:c.723_724del	XP_006721640.1:p.Lys242SerfsTer9
XM_006721578.3:c.723_724del	XP_006721641.1:p.Lys242SerfsTer9
XM_011524010.2:c.648-30_648-29del	XP_011522312.1:n.648-30_648-29del
XM_011524011.2:c.-179_-178del	XP_011522313.1:n.-179_-178del
XR_001752639.1:n.766_767del
XR_001752640.1:n.766_767del
XR_001752641.1:n.766_767del
XR_001752642.1:n.766_767del
XR_001752643.1:n.766_767del
XR_001752644.1:n.766_767del
XR_002958073.1:n.766_767del
XR_429823.3:n.766_767del
XR_429824.3:n.766_767del
NR_046431.2:n.668-30_668-29del