Canonical Allele Identifier: CA613452
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs781447617
ExAC: 1:15772173 CG / C
gnomAD v2: 1-15772173-CG-C
gnomAD v4: 1-15445678-CG-C
MyVariant Identifiers: chr1:g.15772174del (hg19) chr1:g.15445679del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445682del , CM000663.2:g.15445682del GRCh38
NC_000001.10:g.15772177del , CM000663.1:g.15772177del GRCh37
NC_000001.9:g.15644764del NCBI36
NG_009253.1:g.12240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.725del MANE Select ENSP00000365116.4:p.Gly242AlafsTer9
ENST00000375943.6:c.*179del ENSP00000365110.2:n.*179del
ENST00000375949.4:c.725del ENSP00000365116.4:p.Gly242AlafsTer9
ENST00000483406.1:n.489del
NM_007272.2:c.725del NP_009203.2:p.Gly242AlafsTer9
XM_011540550.1:c.579del XP_011538852.1:p.Leu194CysfsTer27
NM_007272.3:c.725del MANE Select NP_009203.2:p.Gly242AlafsTer9
Search 100 bp 5'
Search 100 bp 3'