Canonical Allele Identifier: CA1397870408
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122257624_122257626delinsCTG , CM000665.2:g.122257624_122257626delinsCTG GRCh38
NC_000003.11:g.121976471_121976473delinsCTG , CM000665.1:g.121976471_121976473delinsCTG GRCh37
NC_000003.10:g.123459161_123459163delinsCTG NCBI36
NG_009058.1:g.78942_78944delinsCTG
NG_009058.2:g.78957_78959delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.492+237_492+239delinsCTG ENSP00000418685.2:n.492+237_492+239delinsCTG
ENST00000498619.4:c.492+237_492+239delinsCTG ENSP00000420194.1:n.492+237_492+239delinsCTG
ENST00000638296.1:n.648_650delinsCTG
ENST00000638421.1:c.492+237_492+239delinsCTG ENSP00000492190.1:n.492+237_492+239delinsCTG
ENST00000639785.2:c.492+237_492+239delinsCTG MANE Select ENSP00000491584.2:n.492+237_492+239delinsCTG
ENST00000490131.5:c.492+237_492+239delinsCTG ENSP00000418685.1:n.492+237_492+239delinsCTG
ENST00000490186.1:n.588_590delinsCTG
ENST00000498619.2:c.492+237_492+239delinsCTG ENSP00000420194.1:n.492+237_492+239delinsCTG
NM_000388.3:c.492+237_492+239delinsCTG NP_000379.2:n.492+237_492+239delinsCTG
NM_001178065.1:c.492+237_492+239delinsCTG NP_001171536.1:n.492+237_492+239delinsCTG
XM_005247836.2:c.492+237_492+239delinsCTG XP_005247893.1:n.492+237_492+239delinsCTG
XM_005247837.2:c.9+3250_9+3252delinsCTG XP_005247894.1:n.9+3250_9+3252delinsCTG
XM_006713789.2:c.492+237_492+239delinsCTG XP_006713852.1:n.492+237_492+239delinsCTG
XM_011513237.1:c.492+237_492+239delinsCTG XP_011511539.1:n.492+237_492+239delinsCTG
XM_011513238.1:c.492+237_492+239delinsCTG XP_011511540.1:n.492+237_492+239delinsCTG
XM_006713789.3:c.492+237_492+239delinsCTG XP_006713852.1:n.492+237_492+239delinsCTG
XM_017007324.1:c.492+237_492+239delinsCTG XP_016862813.1:n.492+237_492+239delinsCTG
XM_017007325.1:c.492+237_492+239delinsCTG XP_016862814.1:n.492+237_492+239delinsCTG
NM_000388.4:c.492+237_492+239delinsCTG MANE Select NP_000379.3:n.492+237_492+239delinsCTG
NM_001178065.2:c.492+237_492+239delinsCTG NP_001171536.2:n.492+237_492+239delinsCTG