Canonical Allele Identifier: CA521458369

Gene: CTRC

Linked Data

• dbSNP Id: rs1180369928
• gnomAD v2: 1-15772414-CACTCAT-C
• gnomAD v3: 1-15445919-CACTCAT-C
• gnomAD v4: 1-15445919-CACTCAT-C
• MyVariant Identifiers: chr1:g.15772415_15772420del (hg19) ; chr1:g.15445920_15445925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445920_15445925del , CM000663.2:g.15445920_15445925del	GRCh38
NC_000001.10:g.15772415_15772420del , CM000663.1:g.15772415_15772420del	GRCh37
NC_000001.9:g.15645002_15645007del	NCBI36
NG_009253.1:g.12478_12483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.792+171_792+176del MANE Select	ENSP00000365116.4:n.792+171_792+176del
ENST00000375943.6:c.*246+171_*246+176del	ENSP00000365110.2:n.*246+171_*246+176del
ENST00000375949.4:c.792+171_792+176del	ENSP00000365116.4:n.792+171_792+176del
ENST00000483406.1:n.556+171_556+176del
NM_007272.2:c.792+171_792+176del	NP_009203.2:n.792+171_792+176del
XM_011540550.1:c.646+171_646+176del	XP_011538852.1:n.646+171_646+176del
NM_007272.3:c.792+171_792+176del MANE Select	NP_009203.2:n.792+171_792+176del