Canonical Allele Identifier: CA2243970074
Gene: CTNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3637247_3637248delinsCT , CM000679.2:g.3637247_3637248delinsCT GRCh38
NC_000017.10:g.3540541_3540542delinsCT , CM000679.1:g.3540541_3540542delinsCT GRCh37
NC_000017.9:g.3487290_3487291delinsCT NCBI36
NG_012489.1:g.5780_5781delinsCT
NG_052852.1:g.4075_4076delinsAG
NG_012489.2:g.5780_5781delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000046640.9:c.-89_-88delinsCT MANE Select ENSP00000046640.4:n.-89_-88delinsCT
ENST00000381870.8:c.-89_-88delinsCT ENSP00000371294.3:n.-89_-88delinsCT
ENST00000399306.7:c.-89_-88delinsCT ENSP00000382245.2:n.-89_-88delinsCT
ENST00000488623.6:c.-736_-735delinsCT ENSP00000501016.1:n.-736_-735delinsCT
ENST00000574776.6:c.-262_-261delinsCT ENSP00000461118.2:n.-262_-261delinsCT
ENST00000673669.1:c.-365_-364delinsCT ENSP00000501123.1:n.-365_-364delinsCT
ENST00000673965.1:c.-89_-88delinsCT ENSP00000500995.1:n.-89_-88delinsCT
ENST00000046640.7:c.-89_-88delinsCT ENSP00000046640.3:n.-89_-88delinsCT
ENST00000381870.7:c.-89_-88delinsCT ENSP00000371294.3:n.-89_-88delinsCT
ENST00000399306.6:c.-89_-88delinsCT ENSP00000382245.2:n.-89_-88delinsCT
ENST00000452111.5:c.-89_-88delinsCT ENSP00000408652.1:n.-89_-88delinsCT
ENST00000467663.5:c.-89_-88delinsCT ENSP00000461056.1:n.-89_-88delinsCT
ENST00000488623.5:n.213_214delinsCT
ENST00000495445.5:n.226_227delinsCT
ENST00000574218.1:c.-286_-285delinsCT ENSP00000458912.1:n.-286_-285delinsCT
ENST00000574776.5:c.-262_-261delinsCT ENSP00000461118.1:n.-262_-261delinsCT
NM_001031681.2:c.-89_-88delinsCT NP_001026851.2:n.-89_-88delinsCT
NM_004937.2:c.-89_-88delinsCT NP_004928.2:n.-89_-88delinsCT
XM_005256485.1:c.-89_-88delinsCT XP_005256542.1:n.-89_-88delinsCT
XM_006721463.1:c.-89_-88delinsCT XP_006721526.1:n.-89_-88delinsCT
XM_006721464.1:c.-445_-444delinsCT XP_006721527.1:n.-445_-444delinsCT
XM_011523691.1:c.-89_-88delinsCT XP_011521993.1:n.-89_-88delinsCT
XM_011523692.1:c.-450_-449delinsCT XP_011521994.1:n.-450_-449delinsCT
XR_934003.1:n.505_506delinsCT
XM_005256485.3:c.-89_-88delinsCT XP_005256542.1:n.-89_-88delinsCT
XM_006721463.3:c.-89_-88delinsCT XP_006721526.1:n.-89_-88delinsCT
XM_006721464.2:c.-445_-444delinsCT XP_006721527.1:n.-445_-444delinsCT
XM_011523691.2:c.-89_-88delinsCT XP_011521993.1:n.-89_-88delinsCT
XM_011523692.2:c.-450_-449delinsCT XP_011521994.1:n.-450_-449delinsCT
XM_017024254.1:c.-366_-365delinsCT XP_016879743.1:n.-366_-365delinsCT
XM_017024255.1:c.-445_-444delinsCT XP_016879744.1:n.-445_-444delinsCT
XM_017024256.1:c.-450_-449delinsCT XP_016879745.1:n.-450_-449delinsCT
XM_017024257.1:c.-366_-365delinsCT XP_016879746.1:n.-366_-365delinsCT
XM_017024258.1:c.-365_-364delinsCT XP_016879747.1:n.-365_-364delinsCT
NM_001374492.1:c.-89_-88delinsCT NP_001361421.1:n.-89_-88delinsCT
NM_001374493.1:c.-445_-444delinsCT NP_001361422.1:n.-445_-444delinsCT
NM_001374494.1:c.-450_-449delinsCT NP_001361423.1:n.-450_-449delinsCT
NM_001374495.1:c.-366_-365delinsCT NP_001361424.1:n.-366_-365delinsCT
NM_001374496.1:c.-365_-364delinsCT NP_001361425.1:n.-365_-364delinsCT
NM_004937.3:c.-89_-88delinsCT MANE Select NP_004928.2:n.-89_-88delinsCT
NM_001031681.3:c.-89_-88delinsCT NP_001026851.2:n.-89_-88delinsCT