Canonical Allele Identifier: CA2576162994

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232175_8232191del , CM000679.2:g.8232175_8232191del	GRCh38
NC_000017.10:g.8135493_8135509del , CM000679.1:g.8135493_8135509del	GRCh37
NC_000017.9:g.8076218_8076234del	NCBI36
NG_032148.1:g.20912_20928del
NG_032148.2:g.20912_20928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2104_2120del	ENSP00000462607.2:p.Val702SerfsTer?
ENST00000581729.2:c.2104_2120del	ENSP00000462720.2:p.Val702SerfsTer?
ENST00000581967.2:n.2556_2572del
ENST00000583254.2:n.2810_2826del
ENST00000699849.1:c.1207_1223del	ENSP00000514647.1:p.Val403SerfsTer?
ENST00000699850.1:n.1367_1383del
ENST00000699851.1:n.2126_2142del
ENST00000699852.1:c.*780_*796del	ENSP00000514648.1:n.*780_*796del
ENST00000699853.1:c.2104_2120del	ENSP00000514649.1:p.Val702SerfsTer?
ENST00000699854.1:n.1897_1913del
ENST00000699855.1:n.2556_2572del
ENST00000699856.1:c.2104_2120del	ENSP00000514650.1:p.Val702SerfsTer?
ENST00000699857.1:n.2112_2128del
ENST00000699858.1:c.*717_*733del	ENSP00000514651.1:n.*717_*733del
ENST00000699859.1:c.1975_1991del	ENSP00000514652.1:p.Val659SerfsTer?
ENST00000699860.1:n.210_226del
ENST00000699861.1:n.2126_2142del
ENST00000699862.1:n.3064_3080del
ENST00000449476.7:c.1999_2015del	ENSP00000396018.2:p.Val667SerfsTer?
ENST00000581671.2:n.2093_2109del
ENST00000643543.1:c.*811_*827del	ENSP00000494323.1:n.*811_*827del
ENST00000651323.1:c.2104_2120del MANE Select	ENSP00000498499.1:p.Val702SerfsTer?
ENST00000315684.12:c.2104_2120del	ENSP00000313759.8:p.Val702SerfsTer?
ENST00000449476.6:c.1999_2015del	ENSP00000396018.2:p.Val667SerfsTer?
ENST00000578240.1:n.332_348del
NM_025099.5:c.2104_2120del	NP_079375.3:p.Val702SerfsTer?
NR_046431.1:n.2058_2074del
XM_006721577.2:c.1975_1991del	XP_006721640.1:p.Val659SerfsTer?
XM_006721578.2:c.2104_2120del	XP_006721641.1:p.Val702SerfsTer?
XM_006721579.2:c.2104_2120del	XP_006721642.1:p.Val702SerfsTer?
XM_011524010.1:c.1999_2015del	XP_011522312.1:p.Val667SerfsTer?
XM_011524011.1:c.1207_1223del	XP_011522313.1:p.Val403SerfsTer?
XR_429823.2:n.2147_2163del
XR_429824.2:n.2147_2163del
XR_429825.1:n.2147_2163del
NM_025099.6:c.2104_2120del MANE Select	NP_079375.3:p.Val702SerfsTer?
XM_006721577.3:c.1975_1991del	XP_006721640.1:p.Val659SerfsTer?
XM_006721578.3:c.2104_2120del	XP_006721641.1:p.Val702SerfsTer?
XM_011524010.2:c.1999_2015del	XP_011522312.1:p.Val667SerfsTer?
XM_011524011.2:c.1207_1223del	XP_011522313.1:p.Val403SerfsTer?
XR_001752639.1:n.2018_2034del
XR_001752640.1:n.2147_2163del
XR_001752641.1:n.2147_2163del
XR_001752642.1:n.2147_2163del
XR_001752643.1:n.2577_2593del
XR_002958073.1:n.2147_2163del
XR_429823.3:n.2147_2163del
XR_429824.3:n.2147_2163del
NR_046431.2:n.2019_2035del