Canonical Allele Identifier: CA1397870148
Gene: CASR HGNC NCBI

Linked Data

dbSNP Id: rs2074567788

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122257425_122257439del , CM000665.2:g.122257425_122257439del GRCh38
NC_000003.11:g.121976272_121976286del , CM000665.1:g.121976272_121976286del GRCh37
NC_000003.10:g.123458962_123458976del NCBI36
NG_009058.1:g.78743_78757del
NG_009058.2:g.78758_78772del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.492+38_492+52del ENSP00000418685.2:n.492+38_492+52del
ENST00000498619.4:c.492+38_492+52del ENSP00000420194.1:n.492+38_492+52del
ENST00000638296.1:n.449_463del
ENST00000638421.1:c.492+38_492+52del ENSP00000492190.1:n.492+38_492+52del
ENST00000639785.2:c.492+38_492+52del MANE Select ENSP00000491584.2:n.492+38_492+52del
ENST00000490131.5:c.492+38_492+52del ENSP00000418685.1:n.492+38_492+52del
ENST00000490186.1:n.389_403del
ENST00000498619.2:c.492+38_492+52del ENSP00000420194.1:n.492+38_492+52del
NM_000388.3:c.492+38_492+52del NP_000379.2:n.492+38_492+52del
NM_001178065.1:c.492+38_492+52del NP_001171536.1:n.492+38_492+52del
XM_005247836.2:c.492+38_492+52del XP_005247893.1:n.492+38_492+52del
XM_005247837.2:c.9+3051_9+3065del XP_005247894.1:n.9+3051_9+3065del
XM_006713789.2:c.492+38_492+52del XP_006713852.1:n.492+38_492+52del
XM_011513237.1:c.492+38_492+52del XP_011511539.1:n.492+38_492+52del
XM_011513238.1:c.492+38_492+52del XP_011511540.1:n.492+38_492+52del
XM_006713789.3:c.492+38_492+52del XP_006713852.1:n.492+38_492+52del
XM_017007324.1:c.492+38_492+52del XP_016862813.1:n.492+38_492+52del
XM_017007325.1:c.492+38_492+52del XP_016862814.1:n.492+38_492+52del
NM_000388.4:c.492+38_492+52del MANE Select NP_000379.3:n.492+38_492+52del
NM_001178065.2:c.492+38_492+52del NP_001171536.2:n.492+38_492+52del