Canonical Allele Identifier: CA149708

Gene: CALR

Linked Data

• ClinVar Variation Id: 97006
• ClinVar RCV Id: RCV000083256 ; RCV000083257 ; RCV002498437 ; RCV003883131 ; RCV003883130
• dbSNP Id: rs1555760738
• ExAC: 19:13054564 AGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAG / A
• gnomAD v2: 19-13054564-AGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAG-A
• gnomAD v3: 19-12943750-AGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAG-A
• gnomAD v4: 19-12943750-AGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAG-A
• COSMIC: COSM1738055
• MyVariant Identifiers: chr19:g.13054565_13054616del (hg19) ; chr19:g.12943751_12943802del (hg38)
• PubMed: PMID:24325356 ; PMID:24325359

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12943758_12943809del , CM000681.2:g.12943758_12943809del	GRCh38
NC_000019.9:g.13054572_13054623del , CM000681.1:g.13054572_13054623del	GRCh37
NC_000019.8:g.12915572_12915623del	NCBI36
NG_029662.1:g.10159_10210del , LRG_828:g.10159_10210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316448.10:c.1099_1150del MANE Select	ENSP00000320866.4:p.Leu367ThrfsTer?
ENST00000586760.2:c.1097+2_1097+53del
ENST00000586967.2:c.1099_1150del	ENSP00000466037.2:p.Leu367ThrfsTer?
ENST00000588454.6:c.895_946del	ENSP00000465105.2:p.Leu299ThrfsTer?
ENST00000680816.1:c.*116_*167del	ENSP00000504963.1:n.*116_*167del
ENST00000316448.9:c.1099_1150del	ENSP00000320866.4:p.Leu367ThrfsTer?
ENST00000586760.1:c.451+2_451+53del
ENST00000586803.1:n.463_514del
NM_004343.3:c.1099_1150del , LRG_828t1:c.1099_1150del	NP_004334.1:p.Leu367ThrfsTer?
NM_004343.4:c.1099_1150del MANE Select	NP_004334.1:p.Leu367ThrfsTer?