Canonical Allele Identifier: CA998927580

Gene: CTRC

Linked Data

• dbSNP Id: rs1708213562
• gnomAD v3: 1-15445939-CATTTATTCATTCACTCATGCATTCATTCATTCATTTATTCACTTATTCATTCACTCATTCATGT-C
• gnomAD v4: 1-15445939-CATTTATTCATTCACTCATGCATTCATTCATTCATTTATTCACTTATTCATTCACTCATTCATGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445943_15446006del , CM000663.2:g.15445943_15446006del	GRCh38
NC_000001.10:g.15772438_15772501del , CM000663.1:g.15772438_15772501del	GRCh37
NC_000001.9:g.15645025_15645088del	NCBI36
NG_009253.1:g.12501_12564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.792+194_792+257del MANE Select	ENSP00000365116.4:n.792+194_792+257del
ENST00000375943.6:c.*246+194_*246+257del	ENSP00000365110.2:n.*246+194_*246+257del
ENST00000375949.4:c.792+194_792+257del	ENSP00000365116.4:n.792+194_792+257del
ENST00000483406.1:n.556+194_556+257del
NM_007272.2:c.792+194_792+257del	NP_009203.2:n.792+194_792+257del
XM_011540550.1:c.646+194_646+257del	XP_011538852.1:n.646+194_646+257del
NM_007272.3:c.792+194_792+257del MANE Select	NP_009203.2:n.792+194_792+257del