Canonical Allele Identifier: CA521458370

Gene: CTRC

Linked Data

• dbSNP Id: rs1469147134
• gnomAD v2: 1-15772425-GTATTTATT-G
• gnomAD v3: 1-15445930-GTATTTATT-G
• gnomAD v4: 1-15445930-GTATTTATT-G
• MyVariant Identifiers: chr1:g.15772426_15772433del (hg19) ; chr1:g.15445931_15445938del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445931_15445938del , CM000663.2:g.15445931_15445938del	GRCh38
NC_000001.10:g.15772426_15772433del , CM000663.1:g.15772426_15772433del	GRCh37
NC_000001.9:g.15645013_15645020del	NCBI36
NG_009253.1:g.12489_12496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.792+182_792+189del MANE Select	ENSP00000365116.4:n.792+182_792+189del
ENST00000375943.6:c.*246+182_*246+189del	ENSP00000365110.2:n.*246+182_*246+189del
ENST00000375949.4:c.792+182_792+189del	ENSP00000365116.4:n.792+182_792+189del
ENST00000483406.1:n.556+182_556+189del
NM_007272.2:c.792+182_792+189del	NP_009203.2:n.792+182_792+189del
XM_011540550.1:c.646+182_646+189del	XP_011538852.1:n.646+182_646+189del
NM_007272.3:c.792+182_792+189del MANE Select	NP_009203.2:n.792+182_792+189del