Canonical Allele Identifier: CA889587624

Gene: CTRC

Linked Data

• dbSNP Id: rs1485711482
• gnomAD v3: 1-15446005-T-TTCAA
• gnomAD v4: 1-15446005-T-TTCAA
• MyVariant Identifiers: chr1:g.15772500_15772501insTCAA (hg19) ; chr1:g.15446005_15446006insTCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15446008_15446009insATCA , CM000663.2:g.15446008_15446009insATCA	GRCh38
NC_000001.10:g.15772503_15772504insATCA , CM000663.1:g.15772503_15772504insATCA	GRCh37
NC_000001.9:g.15645090_15645091insATCA	NCBI36
NG_009253.1:g.12566_12567insATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.792+259_792+260insATCA MANE Select	ENSP00000365116.4:n.792+259_792+260insATCA
ENST00000375943.6:c.*246+259_*246+260insATCA	ENSP00000365110.2:n.*246+259_*246+260insATCA
ENST00000375949.4:c.792+259_792+260insATCA	ENSP00000365116.4:n.792+259_792+260insATCA
ENST00000483406.1:n.556+259_556+260insATCA
NM_007272.2:c.792+259_792+260insATCA	NP_009203.2:n.792+259_792+260insATCA
XM_011540550.1:c.646+259_646+260insATCA	XP_011538852.1:n.646+259_646+260insATCA
NM_007272.3:c.792+259_792+260insATCA MANE Select	NP_009203.2:n.792+259_792+260insATCA