Canonical Allele Identifier: CA2667224801

Gene: CASR

Linked Data

• gnomAD v4: 3-122284896-AGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284899_122284973del , CM000665.2:g.122284899_122284973del	GRCh38
NC_000003.11:g.122003746_122003820del , CM000665.1:g.122003746_122003820del	GRCh37
NC_000003.10:g.123486436_123486510del	NCBI36
NG_009058.1:g.106217_106291del
NG_009058.2:g.106232_106306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2714_2788del	ENSP00000418685.2:p.Pro905_Thr929del
ENST00000498619.4:c.2975_3049del	ENSP00000420194.1:p.Pro992_Thr1016del
ENST00000638421.1:c.2945_3019del	ENSP00000492190.1:p.Pro982_Thr1006del
ENST00000639785.2:c.2945_3019del MANE Select	ENSP00000491584.2:p.Pro982_Thr1006del
ENST00000490131.5:c.2945_3019del	ENSP00000418685.1:p.Pro982_Thr1006del
ENST00000498619.2:c.2975_3049del	ENSP00000420194.1:p.Pro992_Thr1016del
NM_000388.3:c.2945_3019del	NP_000379.2:p.Pro982_Thr1006del
NM_001178065.1:c.2975_3049del	NP_001171536.1:p.Pro992_Thr1016del
XM_005247836.2:c.2945_3019del	XP_005247893.1:p.Pro982_Thr1006del
XM_005247837.2:c.2462_2536del	XP_005247894.1:p.Pro821_Thr845del
XM_006713789.2:c.2945_3019del	XP_006713852.1:p.Pro982_Thr1006del
XM_011513237.1:c.2945_3019del	XP_011511539.1:p.Pro982_Thr1006del
XM_011513238.1:c.2945_3019del	XP_011511540.1:p.Pro982_Thr1006del
XM_011513239.1:c.2357_2431del	XP_011511541.1:p.Pro786_Thr810del
XM_006713789.3:c.2945_3019del	XP_006713852.1:p.Pro982_Thr1006del
XM_017007324.1:c.2945_3019del	XP_016862813.1:p.Pro982_Thr1006del
XM_017007325.1:c.2945_3019del	XP_016862814.1:p.Pro982_Thr1006del
NM_000388.4:c.2945_3019del MANE Select	NP_000379.3:p.Pro982_Thr1006del
NM_001178065.2:c.2975_3049del	NP_001171536.2:p.Pro992_Thr1016del