Canonical Allele Identifier: CA521458372

Gene: CTRC

Linked Data

• dbSNP Id: rs1407497287
• gnomAD v2: 1-15772448-CTCATGCATTCATTCAT-C
• gnomAD v3: 1-15445953-CTCATGCATTCATTCAT-C
• gnomAD v4: 1-15445953-CTCATGCATTCATTCAT-C
• MyVariant Identifiers: chr1:g.15772449_15772464del (hg19) ; chr1:g.15445954_15445969del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445958_15445973del , CM000663.2:g.15445958_15445973del	GRCh38
NC_000001.10:g.15772453_15772468del , CM000663.1:g.15772453_15772468del	GRCh37
NC_000001.9:g.15645040_15645055del	NCBI36
NG_009253.1:g.12516_12531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.792+209_792+224del MANE Select	ENSP00000365116.4:n.792+209_792+224del
ENST00000375943.6:c.*246+209_*246+224del	ENSP00000365110.2:n.*246+209_*246+224del
ENST00000375949.4:c.792+209_792+224del	ENSP00000365116.4:n.792+209_792+224del
ENST00000483406.1:n.556+209_556+224del
NM_007272.2:c.792+209_792+224del	NP_009203.2:n.792+209_792+224del
XM_011540550.1:c.646+209_646+224del	XP_011538852.1:n.646+209_646+224del
NM_007272.3:c.792+209_792+224del MANE Select	NP_009203.2:n.792+209_792+224del