Canonical Allele Identifier: CA889587625

Gene: CTRC

Linked Data

• dbSNP Id: rs1183571250
• gnomAD v3: 1-15446019-CATTT-C
• gnomAD v4: 1-15446019-CATTT-C
• MyVariant Identifiers: chr1:g.15772515_15772518del (hg19) ; chr1:g.15446020_15446023del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15446025_15446028del , CM000663.2:g.15446025_15446028del	GRCh38
NC_000001.10:g.15772520_15772523del , CM000663.1:g.15772520_15772523del	GRCh37
NC_000001.9:g.15645107_15645110del	NCBI36
NG_009253.1:g.12583_12586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.792+276_792+279del MANE Select	ENSP00000365116.4:n.792+276_792+279del
ENST00000375943.6:c.*246+276_*246+279del	ENSP00000365110.2:n.*246+276_*246+279del
ENST00000375949.4:c.792+276_792+279del	ENSP00000365116.4:n.792+276_792+279del
ENST00000483406.1:n.556+276_556+279del
NM_007272.2:c.792+276_792+279del	NP_009203.2:n.792+276_792+279del
XM_011540550.1:c.646+276_646+279del	XP_011538852.1:n.646+276_646+279del
NM_007272.3:c.792+276_792+279del MANE Select	NP_009203.2:n.792+276_792+279del