Canonical Allele Identifier: CA1397870330
Gene: CASR HGNC NCBI

Linked Data

dbSNP Id: rs2074561137

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122256972_122256973del , CM000665.2:g.122256972_122256973del GRCh38
NC_000003.11:g.121975819_121975820del , CM000665.1:g.121975819_121975820del GRCh37
NC_000003.10:g.123458509_123458510del NCBI36
NG_009058.1:g.78290_78291del
NG_009058.2:g.78305_78306del

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.186-109_186-108del ENSP00000418685.2:n.186-109_186-108del
ENST00000498619.4:c.186-109_186-108del ENSP00000420194.1:n.186-109_186-108del
ENST00000638296.1:n.105-109_105-108del
ENST00000638421.1:c.186-109_186-108del ENSP00000492190.1:n.186-109_186-108del
ENST00000639785.2:c.186-109_186-108del MANE Select ENSP00000491584.2:n.186-109_186-108del
ENST00000490131.5:c.186-109_186-108del ENSP00000418685.1:n.186-109_186-108del
ENST00000490186.1:n.45-109_45-108del
ENST00000498619.2:c.186-109_186-108del ENSP00000420194.1:n.186-109_186-108del
NM_000388.3:c.186-109_186-108del NP_000379.2:n.186-109_186-108del
NM_001178065.1:c.186-109_186-108del NP_001171536.1:n.186-109_186-108del
XM_005247836.2:c.186-109_186-108del XP_005247893.1:n.186-109_186-108del
XM_005247837.2:c.9+2598_9+2599del XP_005247894.1:n.9+2598_9+2599del
XM_006713789.2:c.186-109_186-108del XP_006713852.1:n.186-109_186-108del
XM_011513237.1:c.186-109_186-108del XP_011511539.1:n.186-109_186-108del
XM_011513238.1:c.186-109_186-108del XP_011511540.1:n.186-109_186-108del
XM_006713789.3:c.186-109_186-108del XP_006713852.1:n.186-109_186-108del
XM_017007324.1:c.186-109_186-108del XP_016862813.1:n.186-109_186-108del
XM_017007325.1:c.186-109_186-108del XP_016862814.1:n.186-109_186-108del
NM_000388.4:c.186-109_186-108del MANE Select NP_000379.3:n.186-109_186-108del
NM_001178065.2:c.186-109_186-108del NP_001171536.2:n.186-109_186-108del