Canonical Allele Identifier: CA521281789

Gene: CTRC

Linked Data

• dbSNP Id: rs1200487631
• gnomAD v2: 1-15772522-T-TACTCATTCATCCATTTATTC
• gnomAD v3: 1-15446027-T-TACTCATTCATCCATTTATTC
• gnomAD v4: 1-15446027-T-TACTCATTCATCCATTTATTC
• MyVariant Identifiers: chr1:g.15772522_15772523insACTCATTCATCCATTTATTC (hg19) ; chr1:g.15446027_15446028insACTCATTCATCCATTTATTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15446038_15446057dup , CM000663.2:g.15446038_15446057dup	GRCh38
NC_000001.10:g.15772533_15772552dup , CM000663.1:g.15772533_15772552dup	GRCh37
NC_000001.9:g.15645120_15645139dup	NCBI36
NG_009253.1:g.12596_12615dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.792+289_792+308dup MANE Select	ENSP00000365116.4:n.792+289_792+308dup
ENST00000375943.6:c.*246+289_*246+308dup	ENSP00000365110.2:n.*246+289_*246+308dup
ENST00000375949.4:c.792+289_792+308dup	ENSP00000365116.4:n.792+289_792+308dup
ENST00000483406.1:n.556+289_556+308dup
NM_007272.2:c.792+289_792+308dup	NP_009203.2:n.792+289_792+308dup
XM_011540550.1:c.646+289_646+308dup	XP_011538852.1:n.646+289_646+308dup
NM_007272.3:c.792+289_792+308dup MANE Select	NP_009203.2:n.792+289_792+308dup