Canonical Allele Identifier: CA18254158

Gene: CTRC

Linked Data

• dbSNP Id: rs55945515
• gnomAD v2: 1-15772498-T-TATTC
• gnomAD v3: 1-15446003-T-TATTC
• gnomAD v4: 1-15446003-T-TATTC
• MyVariant Identifiers: chr1:g.15772498_15772499insATTC (hg19) ; chr1:g.15446003_15446004insATTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15446014_15446017dup , CM000663.2:g.15446014_15446017dup	GRCh38
NC_000001.10:g.15772509_15772512dup , CM000663.1:g.15772509_15772512dup	GRCh37
NC_000001.9:g.15645096_15645099dup	NCBI36
NG_009253.1:g.12572_12575dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.792+265_792+268dup MANE Select	ENSP00000365116.4:n.792+265_792+268dup
ENST00000375943.6:c.*246+265_*246+268dup	ENSP00000365110.2:n.*246+265_*246+268dup
ENST00000375949.4:c.792+265_792+268dup	ENSP00000365116.4:n.792+265_792+268dup
ENST00000483406.1:n.556+265_556+268dup
NM_007272.2:c.792+265_792+268dup	NP_009203.2:n.792+265_792+268dup
XM_011540550.1:c.646+265_646+268dup	XP_011538852.1:n.646+265_646+268dup
NM_007272.3:c.792+265_792+268dup MANE Select	NP_009203.2:n.792+265_792+268dup