Canonical Allele Identifier: CA576707020

Gene: CALCR

Linked Data

• dbSNP Id: rs1244353247
• gnomAD v2: 7-93055824-G-GT
• gnomAD v4: 7-93426512-G-GT
• MyVariant Identifiers: chr7:g.93055824_93055825insT (hg19) ; chr7:g.93426512_93426513insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426514dup , CM000669.2:g.93426514dup	GRCh38
NC_000007.13:g.93055826dup , CM000669.1:g.93055826dup	GRCh37
NC_000007.12:g.92893762dup	NCBI36
NG_013005.1:g.153218dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1268dup MANE Select	ENSP00000389295.1:p.Asn423LysfsTer28
ENST00000649521.1:c.1316dup	ENSP00000497687.1:p.Asn439LysfsTer28
ENST00000359558.6:c.1370dup	ENSP00000352561.2:p.Asn457LysfsTer28
ENST00000360249.8:c.*778dup	ENSP00000353385.5:n.*778dup
ENST00000394441.5:c.1268dup	ENSP00000377959.1:p.Asn423LysfsTer28
ENST00000415529.2:c.1318dup	ENSP00000413179.1:n.1318dup
ENST00000421592.5:c.1316dup	ENSP00000399552.1:p.Asn439LysfsTer28
ENST00000423724.5:c.1366dup	ENSP00000391369.1:n.1366dup
ENST00000426151.5:c.1268dup	ENSP00000389295.1:p.Asn423LysfsTer28
NM_001164737.1:c.1370dup	NP_001158209.1:p.Asn457LysfsTer28
NM_001164738.1:c.1268dup	NP_001158210.1:p.Asn423LysfsTer28
NM_001742.3:c.1268dup	NP_001733.1:p.Asn423LysfsTer28
NM_001164737.2:c.1316dup	NP_001158209.2:p.Asn439LysfsTer28
NM_001742.4:c.1268dup MANE Select	NP_001733.1:p.Asn423LysfsTer28
NM_001164737.3:c.1316dup	NP_001158209.2:p.Asn439LysfsTer28
NM_001164738.2:c.1268dup	NP_001158210.1:p.Asn423LysfsTer28