Canonical Allele Identifier: CA345648

Gene: CTRC

Linked Data

• ClinVar Variation Id: 132150
• ClinVar RCV Id: RCV000119046 ; RCV001270051 ; RCV000506428 ; RCV002267727
• dbSNP Id: rs515726210
• ExAC: 1:15772182 AACACCCGCAAGAAGCCGGTAGTCT / A
• gnomAD v2: 1-15772182-AACACCCGCAAGAAGCCGGTAGTCT-A
• gnomAD v3: 1-15445687-AACACCCGCAAGAAGCCGGTAGTCT-A
• gnomAD v4: 1-15445687-AACACCCGCAAGAAGCCGGTAGTCT-A
• MyVariant Identifiers: chr1:g.15772190_15772213del (hg19) ; chr1:g.15772183_15772206del (hg19) ; chr1:g.15445695_15445718del (hg38) ; chr1:g.15445688_15445711del (hg38)
• PubMed: PMID:18172691 ; PMID:24624459

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