Canonical Allele Identifier: CA889587622

Gene: CTRC

Linked Data

• dbSNP Id: rs55945515
• gnomAD v3: 1-15446003-TATTC-T
• gnomAD v4: 1-15446003-TATTC-T
• MyVariant Identifiers: chr1:g.15772499_15772502del (hg19) ; chr1:g.15446004_15446007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15446014_15446017del , CM000663.2:g.15446014_15446017del	GRCh38
NC_000001.10:g.15772509_15772512del , CM000663.1:g.15772509_15772512del	GRCh37
NC_000001.9:g.15645096_15645099del	NCBI36
NG_009253.1:g.12572_12575del

Transcript Alleles

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