Canonical Allele Identifier: CA658795400

Gene: CTRC

Linked Data

• ClinVar Variation Id: 523496
• ClinVar RCV Id: RCV000626905
• dbSNP Id: rs1553134935
• MyVariant Identifiers: chr1:g.15772151_15772155del (hg19) ; chr1:g.15445656_15445660del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445656_15445660del , CM000663.2:g.15445656_15445660del	GRCh38
NC_000001.10:g.15772151_15772155del , CM000663.1:g.15772151_15772155del	GRCh37
NC_000001.9:g.15644738_15644742del	NCBI36
NG_009253.1:g.12214_12218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.699_703del MANE Select	ENSP00000365116.4:p.Ile234GlnfsTer?
ENST00000375943.6:c.*153_*157del	ENSP00000365110.2:n.*153_*157del
ENST00000375949.4:c.699_703del	ENSP00000365116.4:p.Ile234GlnfsTer?
ENST00000483406.1:n.463_467del
NM_007272.2:c.699_703del	NP_009203.2:p.Ile234GlnfsTer?
XM_011540550.1:c.553_557del	XP_011538852.1:p.His185SerfsTer16
NM_007272.3:c.699_703del MANE Select	NP_009203.2:p.Ile234GlnfsTer?