Canonical Allele Identifier: CA521458357

Gene: CTRC

Linked Data

• ClinVar Variation Id: 2983107
• ClinVar RCV Id: RCV003847722
• dbSNP Id: rs1391162403
• gnomAD v2: 1-15772203-G-GTCAACACCCGCAAGAAGCCGGTAC
• gnomAD v3: 1-15445708-G-GTCAACACCCGCAAGAAGCCGGTAC
• gnomAD v4: 1-15445708-G-GTCAACACCCGCAAGAAGCCGGTAC
• MyVariant Identifiers: chr1:g.15772203_15772204insTCAACACCCGCAAGAAGCCGGTAC (hg19) ; chr1:g.15445708_15445709insTCAACACCCGCAAGAAGCCGGTAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445710_15445711insAACACCCGCAAGAAGCCGGTACTC , CM000663.2:g.15445710_15445711insAACACCCGCAAGAAGCCGGTACTC	GRCh38
NC_000001.10:g.15772205_15772206insAACACCCGCAAGAAGCCGGTACTC , CM000663.1:g.15772205_15772206insAACACCCGCAAGAAGCCGGTACTC	GRCh37
NC_000001.9:g.15644792_15644793insAACACCCGCAAGAAGCCGGTACTC	NCBI36
NG_009253.1:g.12268_12269insAACACCCGCAAGAAGCCGGTACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.753_754insAACACCCGCAAGAAGCCGGTACTC MANE Select	ENSP00000365116.4:p.Val251_Tyr252insAsnThrArgLysLysProValLeu
ENST00000375943.6:c.*207_*208insAACACCCGCAAGAAGCCGGTACTC	ENSP00000365110.2:n.*207_*208insAACACCCGCAAGAAGCCGGTACTC
ENST00000375949.4:c.753_754insAACACCCGCAAGAAGCCGGTACTC	ENSP00000365116.4:p.Val251_Tyr252insAsnThrArgLysLysProValLeu
ENST00000483406.1:n.517_518insAACACCCGCAAGAAGCCGGTACTC
NM_007272.2:c.753_754insAACACCCGCAAGAAGCCGGTACTC	NP_009203.2:p.Val251_Tyr252insAsnThrArgLysLysProValLeu
XM_011540550.1:c.607_608insAACACCCGCAAGAAGCCGGTACTC	XP_011538852.1:p.Ser202_Leu203insGlnHisProGlnGluAlaGlyThr
NM_007272.3:c.753_754insAACACCCGCAAGAAGCCGGTACTC MANE Select	NP_009203.2:p.Val251_Tyr252insAsnThrArgLysLysProValLeu