Canonical Allele Identifier: CA2243969829
Gene: CTNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3636819_3636820delinsTG , CM000679.2:g.3636819_3636820delinsTG GRCh38
NC_000017.10:g.3540113_3540114delinsTG , CM000679.1:g.3540113_3540114delinsTG GRCh37
NC_000017.9:g.3486862_3486863delinsTG NCBI36
NG_012489.1:g.5352_5353delinsTG
NG_052852.1:g.4503_4504delinsCA
NG_012489.2:g.5352_5353delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000046640.9:c.-242_-241delinsTG MANE Select ENSP00000046640.4:n.-242_-241delinsTG
ENST00000381870.8:c.-230+111_-230+112delinsTG ENSP00000371294.3:n.-230+111_-230+112delinsTG
ENST00000488623.6:c.-889_-888delinsTG ENSP00000501016.1:n.-889_-888delinsTG
ENST00000574776.6:c.-415_-414delinsTG ENSP00000461118.2:n.-415_-414delinsTG
ENST00000673669.1:c.-518_-517delinsTG ENSP00000501123.1:n.-518_-517delinsTG
ENST00000673965.1:c.-230+116_-230+117delinsTG ENSP00000500995.1:n.-230+116_-230+117delinsTG
ENST00000046640.7:c.-242_-241delinsTG ENSP00000046640.3:n.-242_-241delinsTG
ENST00000381870.7:c.-230+111_-230+112delinsTG ENSP00000371294.3:n.-230+111_-230+112delinsTG
ENST00000452111.5:c.-298_-297delinsTG ENSP00000408652.1:n.-298_-297delinsTG
ENST00000467663.5:c.-242_-241delinsTG ENSP00000461056.1:n.-242_-241delinsTG
ENST00000488623.5:n.60_61delinsTG
ENST00000495445.5:n.73_74delinsTG
ENST00000574218.1:c.-439_-438delinsTG ENSP00000458912.1:n.-439_-438delinsTG
ENST00000574776.5:c.-415_-414delinsTG ENSP00000461118.1:n.-415_-414delinsTG
NM_001031681.2:c.-230+111_-230+112delinsTG NP_001026851.2:n.-230+111_-230+112delinsTG
NM_004937.2:c.-242_-241delinsTG NP_004928.2:n.-242_-241delinsTG
XM_005256485.1:c.-242_-241delinsTG XP_005256542.1:n.-242_-241delinsTG
XM_006721463.1:c.-230+116_-230+117delinsTG XP_006721526.1:n.-230+116_-230+117delinsTG
XM_006721464.1:c.-598_-597delinsTG XP_006721527.1:n.-598_-597delinsTG
XM_011523691.1:c.-298_-297delinsTG XP_011521993.1:n.-298_-297delinsTG
XM_011523692.1:c.-603_-602delinsTG XP_011521994.1:n.-603_-602delinsTG
XR_934003.1:n.352_353delinsTG
XM_005256485.3:c.-242_-241delinsTG XP_005256542.1:n.-242_-241delinsTG
XM_006721463.3:c.-230+116_-230+117delinsTG XP_006721526.1:n.-230+116_-230+117delinsTG
XM_006721464.2:c.-598_-597delinsTG XP_006721527.1:n.-598_-597delinsTG
XM_011523691.2:c.-298_-297delinsTG XP_011521993.1:n.-298_-297delinsTG
XM_011523692.2:c.-603_-602delinsTG XP_011521994.1:n.-603_-602delinsTG
XM_017024254.1:c.-519_-518delinsTG XP_016879743.1:n.-519_-518delinsTG
XM_017024255.1:c.-598_-597delinsTG XP_016879744.1:n.-598_-597delinsTG
XM_017024256.1:c.-603_-602delinsTG XP_016879745.1:n.-603_-602delinsTG
XM_017024257.1:c.-519_-518delinsTG XP_016879746.1:n.-519_-518delinsTG
XM_017024258.1:c.-518_-517delinsTG XP_016879747.1:n.-518_-517delinsTG
NM_001374492.1:c.-242_-241delinsTG NP_001361421.1:n.-242_-241delinsTG
NM_001374493.1:c.-598_-597delinsTG NP_001361422.1:n.-598_-597delinsTG
NM_001374494.1:c.-603_-602delinsTG NP_001361423.1:n.-603_-602delinsTG
NM_001374495.1:c.-519_-518delinsTG NP_001361424.1:n.-519_-518delinsTG
NM_001374496.1:c.-518_-517delinsTG NP_001361425.1:n.-518_-517delinsTG
NM_004937.3:c.-242_-241delinsTG MANE Select NP_004928.2:n.-242_-241delinsTG
NM_001031681.3:c.-230+111_-230+112delinsTG NP_001026851.2:n.-230+111_-230+112delinsTG