Canonical Allele Identifier: CA521458366

Gene: CTRC

Linked Data

• dbSNP Id: rs1458162915
• gnomAD v2: 1-15772402-CACTT-C
• gnomAD v3: 1-15445907-CACTT-C
• gnomAD v4: 1-15445907-CACTT-C
• MyVariant Identifiers: chr1:g.15772403_15772406del (hg19) ; chr1:g.15445908_15445911del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445909_15445912del , CM000663.2:g.15445909_15445912del	GRCh38
NC_000001.10:g.15772404_15772407del , CM000663.1:g.15772404_15772407del	GRCh37
NC_000001.9:g.15644991_15644994del	NCBI36
NG_009253.1:g.12467_12470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.792+160_792+163del MANE Select	ENSP00000365116.4:n.792+160_792+163del
ENST00000375943.6:c.*246+160_*246+163del	ENSP00000365110.2:n.*246+160_*246+163del
ENST00000375949.4:c.792+160_792+163del	ENSP00000365116.4:n.792+160_792+163del
ENST00000483406.1:n.556+160_556+163del
NM_007272.2:c.792+160_792+163del	NP_009203.2:n.792+160_792+163del
XM_011540550.1:c.646+160_646+163del	XP_011538852.1:n.646+160_646+163del
NM_007272.3:c.792+160_792+163del MANE Select	NP_009203.2:n.792+160_792+163del