Canonical Allele Identifier: CA2586972869
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284285_122284286insAGC , CM000665.2:g.122284285_122284286insAGC GRCh38
NC_000003.11:g.122003132_122003133insAGC , CM000665.1:g.122003132_122003133insAGC GRCh37
NC_000003.10:g.123485822_123485823insAGC NCBI36
NG_009058.1:g.105603_105604insAGC
NG_009058.2:g.105618_105619insAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2100_2101insAGC ENSP00000418685.2:p.Ile700_Gly701insSer
ENST00000498619.4:c.2361_2362insAGC ENSP00000420194.1:p.Ile787_Gly788insSer
ENST00000638421.1:c.2331_2332insAGC ENSP00000492190.1:p.Ile777_Gly778insSer
ENST00000639785.2:c.2331_2332insAGC MANE Select ENSP00000491584.2:p.Ile777_Gly778insSer
ENST00000490131.5:c.2331_2332insAGC ENSP00000418685.1:p.Ile777_Gly778insSer
ENST00000498619.2:c.2361_2362insAGC ENSP00000420194.1:p.Ile787_Gly788insSer
NM_000388.3:c.2331_2332insAGC NP_000379.2:p.Ile777_Gly778insSer
NM_001178065.1:c.2361_2362insAGC NP_001171536.1:p.Ile787_Gly788insSer
XM_005247836.2:c.2331_2332insAGC XP_005247893.1:p.Ile777_Gly778insSer
XM_005247837.2:c.1848_1849insAGC XP_005247894.1:p.Ile616_Gly617insSer
XM_006713789.2:c.2331_2332insAGC XP_006713852.1:p.Ile777_Gly778insSer
XM_011513237.1:c.2331_2332insAGC XP_011511539.1:p.Ile777_Gly778insSer
XM_011513238.1:c.2331_2332insAGC XP_011511540.1:p.Ile777_Gly778insSer
XM_011513239.1:c.1743_1744insAGC XP_011511541.1:p.Ile581_Gly582insSer
XM_006713789.3:c.2331_2332insAGC XP_006713852.1:p.Ile777_Gly778insSer
XM_017007324.1:c.2331_2332insAGC XP_016862813.1:p.Ile777_Gly778insSer
XM_017007325.1:c.2331_2332insAGC XP_016862814.1:p.Ile777_Gly778insSer
NM_000388.4:c.2331_2332insAGC MANE Select NP_000379.3:p.Ile777_Gly778insSer
NM_001178065.2:c.2361_2362insAGC NP_001171536.2:p.Ile787_Gly788insSer