Canonical Allele Identifier: CA345648
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 132150
dbSNP Id: rs515726210

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445695_15445718del , CM000663.2:g.15445695_15445718del GRCh38
NC_000001.10:g.15772190_15772213del , CM000663.1:g.15772190_15772213del GRCh37
NC_000001.9:g.15644777_15644800del NCBI36
NG_009253.1:g.12253_12276del

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.738_761del MANE Select ENSP00000365116.4:p.Lys247_Arg254del
ENST00000375943.6:c.*192_*215del ENSP00000365110.2:n.*192_*215del
ENST00000375949.4:c.738_761del ENSP00000365116.4:p.Lys247_Arg254del
ENST00000483406.1:n.502_525del
NM_007272.2:c.738_761del NP_009203.2:p.Lys247_Arg254del
XM_011540550.1:c.592_615del XP_011538852.1:p.Gln198_Pro205del
NM_007272.3:c.738_761del MANE Select NP_009203.2:p.Lys247_Arg254del