Canonical Allele Identifier: CA2667224704

Gene: CASR

Linked Data

• gnomAD v4: 3-122284601-G-GTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284604_122284607dup , CM000665.2:g.122284604_122284607dup	GRCh38
NC_000003.11:g.122003451_122003454dup , CM000665.1:g.122003451_122003454dup	GRCh37
NC_000003.10:g.123486141_123486144dup	NCBI36
NG_009058.1:g.105922_105925dup
NG_009058.2:g.105937_105940dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2419_2422dup	ENSP00000418685.2:p.Ala808GlyfsTer?
ENST00000498619.4:c.2680_2683dup	ENSP00000420194.1:p.Ala895GlyfsTer?
ENST00000638421.1:c.2650_2653dup	ENSP00000492190.1:p.Ala885GlyfsTer?
ENST00000639785.2:c.2650_2653dup MANE Select	ENSP00000491584.2:p.Ala885GlyfsTer?
ENST00000490131.5:c.2650_2653dup	ENSP00000418685.1:p.Ala885GlyfsTer?
ENST00000498619.2:c.2680_2683dup	ENSP00000420194.1:p.Ala895GlyfsTer?
NM_000388.3:c.2650_2653dup	NP_000379.2:p.Ala885GlyfsTer?
NM_001178065.1:c.2680_2683dup	NP_001171536.1:p.Ala895GlyfsTer?
XM_005247836.2:c.2650_2653dup	XP_005247893.1:p.Ala885GlyfsTer?
XM_005247837.2:c.2167_2170dup	XP_005247894.1:p.Ala724GlyfsTer?
XM_006713789.2:c.2650_2653dup	XP_006713852.1:p.Ala885GlyfsTer?
XM_011513237.1:c.2650_2653dup	XP_011511539.1:p.Ala885GlyfsTer?
XM_011513238.1:c.2650_2653dup	XP_011511540.1:p.Ala885GlyfsTer?
XM_011513239.1:c.2062_2065dup	XP_011511541.1:p.Ala689GlyfsTer?
XM_006713789.3:c.2650_2653dup	XP_006713852.1:p.Ala885GlyfsTer?
XM_017007324.1:c.2650_2653dup	XP_016862813.1:p.Ala885GlyfsTer?
XM_017007325.1:c.2650_2653dup	XP_016862814.1:p.Ala885GlyfsTer?
NM_000388.4:c.2650_2653dup MANE Select	NP_000379.3:p.Ala885GlyfsTer?
NM_001178065.2:c.2680_2683dup	NP_001171536.2:p.Ala895GlyfsTer?