Canonical Allele Identifier: CA2635985242

Gene: CTC1

Linked Data

• gnomAD v4: 17-8231617-AGCCTTCTTCCAGGAGGCCTAGAGAATGACCAGGCACTGGCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231621_8231662del , CM000679.2:g.8231621_8231662del	GRCh38
NC_000017.10:g.8134939_8134980del , CM000679.1:g.8134939_8134980del	GRCh37
NC_000017.9:g.8075664_8075705del	NCBI36
NG_032148.1:g.21437_21478del
NG_032148.2:g.21437_21478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2475+67_2475+108del	ENSP00000462607.2:n.2475+67_2475+108del
ENST00000581729.2:c.2475+67_2475+108del	ENSP00000462720.2:n.2475+67_2475+108del
ENST00000581967.2:n.2927+67_2927+108del
ENST00000583254.2:n.3335_3376del
ENST00000699849.1:c.1578+67_1578+108del	ENSP00000514647.1:n.1578+67_1578+108del
ENST00000699850.1:n.1738+67_1738+108del
ENST00000699851.1:n.2497+67_2497+108del
ENST00000699852.1:c.*1151+67_*1151+108del	ENSP00000514648.1:n.*1151+67_*1151+108del
ENST00000699853.1:c.2475+67_2475+108del	ENSP00000514649.1:n.2475+67_2475+108del
ENST00000699854.1:n.2268+67_2268+108del
ENST00000699855.1:n.2927+67_2927+108del
ENST00000699856.1:c.2475+67_2475+108del	ENSP00000514650.1:n.2475+67_2475+108del
ENST00000699857.1:n.2483+67_2483+108del
ENST00000699858.1:c.*1088+67_*1088+108del	ENSP00000514651.1:n.*1088+67_*1088+108del
ENST00000699859.1:c.2346+67_2346+108del	ENSP00000514652.1:n.2346+67_2346+108del
ENST00000699860.1:n.581+67_581+108del
ENST00000699861.1:n.2497+67_2497+108del
ENST00000699862.1:n.3435+67_3435+108del
ENST00000449476.7:c.2370+67_2370+108del	ENSP00000396018.2:n.2370+67_2370+108del
ENST00000581671.2:n.2464+67_2464+108del
ENST00000643543.1:c.*1182+67_*1182+108del	ENSP00000494323.1:n.*1182+67_*1182+108del
ENST00000651323.1:c.2475+67_2475+108del MANE Select	ENSP00000498499.1:n.2475+67_2475+108del
ENST00000315684.12:c.2475+67_2475+108del	ENSP00000313759.8:n.2475+67_2475+108del
ENST00000449476.6:c.2370+67_2370+108del	ENSP00000396018.2:n.2370+67_2370+108del
ENST00000578240.1:n.703+67_703+108del
ENST00000578537.1:c.371+67_371+108del
NM_025099.5:c.2475+67_2475+108del	NP_079375.3:n.2475+67_2475+108del
NR_046431.1:n.2429+67_2429+108del
XM_006721577.2:c.2346+67_2346+108del	XP_006721640.1:n.2346+67_2346+108del
XM_006721578.2:c.2475+67_2475+108del	XP_006721641.1:n.2475+67_2475+108del
XM_006721579.2:c.2475+67_2475+108del	XP_006721642.1:n.2475+67_2475+108del
XM_011524010.1:c.2370+67_2370+108del	XP_011522312.1:n.2370+67_2370+108del
XM_011524011.1:c.1578+67_1578+108del	XP_011522313.1:n.1578+67_1578+108del
XR_429823.2:n.2518+67_2518+108del
XR_429824.2:n.2518+67_2518+108del
XR_429825.1:n.2518+67_2518+108del
NM_025099.6:c.2475+67_2475+108del MANE Select	NP_079375.3:n.2475+67_2475+108del
XM_006721577.3:c.2346+67_2346+108del	XP_006721640.1:n.2346+67_2346+108del
XM_006721578.3:c.2475+67_2475+108del	XP_006721641.1:n.2475+67_2475+108del
XM_011524010.2:c.2370+67_2370+108del	XP_011522312.1:n.2370+67_2370+108del
XM_011524011.2:c.1578+67_1578+108del	XP_011522313.1:n.1578+67_1578+108del
XR_001752639.1:n.2389+67_2389+108del
XR_001752640.1:n.2518+67_2518+108del
XR_001752641.1:n.2518+67_2518+108del
XR_001752642.1:n.2518+67_2518+108del
XR_001752643.1:n.2948+67_2948+108del
XR_002958073.1:n.2518+67_2518+108del
XR_429823.3:n.2518+67_2518+108del
XR_429824.3:n.2518+67_2518+108del
NR_046431.2:n.2390+67_2390+108del