Canonical Allele Identifier: CA521458375

Gene: CTRC

Linked Data

• dbSNP Id: rs1441527699
• gnomAD v2: 1-15772488-CTCAT-C
• gnomAD v3: 1-15445993-CTCAT-C
• gnomAD v4: 1-15445993-CTCAT-C
• MyVariant Identifiers: chr1:g.15772489_15772492del (hg19) ; chr1:g.15445994_15445997del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445998_15446001del , CM000663.2:g.15445998_15446001del	GRCh38
NC_000001.10:g.15772493_15772496del , CM000663.1:g.15772493_15772496del	GRCh37
NC_000001.9:g.15645080_15645083del	NCBI36
NG_009253.1:g.12556_12559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.792+249_792+252del MANE Select	ENSP00000365116.4:n.792+249_792+252del
ENST00000375943.6:c.*246+249_*246+252del	ENSP00000365110.2:n.*246+249_*246+252del
ENST00000375949.4:c.792+249_792+252del	ENSP00000365116.4:n.792+249_792+252del
ENST00000483406.1:n.556+249_556+252del
NM_007272.2:c.792+249_792+252del	NP_009203.2:n.792+249_792+252del
XM_011540550.1:c.646+249_646+252del	XP_011538852.1:n.646+249_646+252del
NM_007272.3:c.792+249_792+252del MANE Select	NP_009203.2:n.792+249_792+252del