Canonical Allele Identifier: CA2586972837

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257256_122257259del , CM000665.2:g.122257256_122257259del	GRCh38
NC_000003.11:g.121976103_121976106del , CM000665.1:g.121976103_121976106del	GRCh37
NC_000003.10:g.123458793_123458796del	NCBI36
NG_009058.1:g.78574_78577del
NG_009058.2:g.78589_78592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.361_364del	ENSP00000418685.2:p.Asp121LeufsTer2
ENST00000498619.4:c.361_364del	ENSP00000420194.1:p.Asp121LeufsTer2
ENST00000638296.1:n.280_283del
ENST00000638421.1:c.361_364del	ENSP00000492190.1:p.Asp121LeufsTer2
ENST00000639785.2:c.361_364del MANE Select	ENSP00000491584.2:p.Asp121LeufsTer2
ENST00000490131.5:c.361_364del	ENSP00000418685.1:p.Asp121LeufsTer2
ENST00000490186.1:n.220_223del
ENST00000498619.2:c.361_364del	ENSP00000420194.1:p.Asp121LeufsTer2
NM_000388.3:c.361_364del	NP_000379.2:p.Asp121LeufsTer2
NM_001178065.1:c.361_364del	NP_001171536.1:p.Asp121LeufsTer2
XM_005247836.2:c.361_364del	XP_005247893.1:p.Asp121LeufsTer2
XM_005247837.2:c.9+2882_9+2885del	XP_005247894.1:n.9+2882_9+2885del
XM_006713789.2:c.361_364del	XP_006713852.1:p.Asp121LeufsTer2
XM_011513237.1:c.361_364del	XP_011511539.1:p.Asp121LeufsTer2
XM_011513238.1:c.361_364del	XP_011511540.1:p.Asp121LeufsTer2
XM_006713789.3:c.361_364del	XP_006713852.1:p.Asp121LeufsTer2
XM_017007324.1:c.361_364del	XP_016862813.1:p.Asp121LeufsTer2
XM_017007325.1:c.361_364del	XP_016862814.1:p.Asp121LeufsTer2
NM_000388.4:c.361_364del MANE Select	NP_000379.3:p.Asp121LeufsTer2
NM_001178065.2:c.361_364del	NP_001171536.2:p.Asp121LeufsTer2