Canonical Allele Identifier: CA2580616518

Gene: CASR

Linked Data

• ClinVar Variation Id: 2021395
• ClinVar RCV Id: RCV002866316

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284691_122284693dup , CM000665.2:g.122284691_122284693dup	GRCh38
NC_000003.11:g.122003538_122003540dup , CM000665.1:g.122003538_122003540dup	GRCh37
NC_000003.10:g.123486228_123486230dup	NCBI36
NG_009058.1:g.106009_106011dup
NG_009058.2:g.106024_106026dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2506_2508dup	ENSP00000418685.2:p.Ser836_Ile837insSer
ENST00000498619.4:c.2767_2769dup	ENSP00000420194.1:p.Ser923_Ile924insSer
ENST00000638421.1:c.2737_2739dup	ENSP00000492190.1:p.Ser913_Ile914insSer
ENST00000639785.2:c.2737_2739dup MANE Select	ENSP00000491584.2:p.Ser913_Ile914insSer
ENST00000490131.5:c.2737_2739dup	ENSP00000418685.1:p.Ser913_Ile914insSer
ENST00000498619.2:c.2767_2769dup	ENSP00000420194.1:p.Ser923_Ile924insSer
NM_000388.3:c.2737_2739dup	NP_000379.2:p.Ser913_Ile914insSer
NM_001178065.1:c.2767_2769dup	NP_001171536.1:p.Ser923_Ile924insSer
XM_005247836.2:c.2737_2739dup	XP_005247893.1:p.Ser913_Ile914insSer
XM_005247837.2:c.2254_2256dup	XP_005247894.1:p.Ser752_Ile753insSer
XM_006713789.2:c.2737_2739dup	XP_006713852.1:p.Ser913_Ile914insSer
XM_011513237.1:c.2737_2739dup	XP_011511539.1:p.Ser913_Ile914insSer
XM_011513238.1:c.2737_2739dup	XP_011511540.1:p.Ser913_Ile914insSer
XM_011513239.1:c.2149_2151dup	XP_011511541.1:p.Ser717_Ile718insSer
XM_006713789.3:c.2737_2739dup	XP_006713852.1:p.Ser913_Ile914insSer
XM_017007324.1:c.2737_2739dup	XP_016862813.1:p.Ser913_Ile914insSer
XM_017007325.1:c.2737_2739dup	XP_016862814.1:p.Ser913_Ile914insSer
NM_000388.4:c.2737_2739dup MANE Select	NP_000379.3:p.Ser913_Ile914insSer
NM_001178065.2:c.2767_2769dup	NP_001171536.2:p.Ser923_Ile924insSer