Canonical Allele Identifier: CA613472
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs756384572
ExAC: 1:15772238 C / CA
gnomAD v2: 1-15772238-C-CA
MyVariant Identifiers: chr1:g.15772238_15772239insA (hg19) chr1:g.15445743_15445744insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445745dup , CM000663.2:g.15445745dup GRCh38
NC_000001.10:g.15772240dup , CM000663.1:g.15772240dup GRCh37
NC_000001.9:g.15644827dup NCBI36
NG_009253.1:g.12303dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.788dup MANE Select ENSP00000365116.4:p.Asn263LysfsTer?
ENST00000375943.6:c.*242dup ENSP00000365110.2:n.*242dup
ENST00000375949.4:c.788dup ENSP00000365116.4:p.Asn263LysfsTer?
ENST00000483406.1:n.552dup
NM_007272.2:c.788dup NP_009203.2:p.Asn263LysfsTer?
XM_011540550.1:c.642dup XP_011538852.1:p.Arg215ThrfsTer?
NM_007272.3:c.788dup MANE Select NP_009203.2:p.Asn263LysfsTer?
Search 100 bp 5'
Search 100 bp 3'