Canonical Allele Identifier: CA2667224976

Gene: CASR

Linked Data

• gnomAD v4: 3-122285259-C-CTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285259_122285260insTGGG , CM000665.2:g.122285259_122285260insTGGG	GRCh38
NC_000003.11:g.122004106_122004107insTGGG , CM000665.1:g.122004106_122004107insTGGG	GRCh37
NC_000003.10:g.123486796_123486797insTGGG	NCBI36
NG_009058.1:g.106577_106578insTGGG
NG_009058.2:g.106592_106593insTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.*68_*69insTGGG	ENSP00000418685.2:n.*68_*69insTGGG
ENST00000498619.4:c.*68_*69insTGGG	ENSP00000420194.1:n.*68_*69insTGGG
ENST00000638421.1:c.*68_*69insTGGG	ENSP00000492190.1:n.*68_*69insTGGG
ENST00000639785.2:c.*68_*69insTGGG MANE Select	ENSP00000491584.2:n.*68_*69insTGGG
ENST00000490131.5:c.*68_*69insTGGG	ENSP00000418685.1:n.*68_*69insTGGG
ENST00000498619.2:c.*68_*69insTGGG	ENSP00000420194.1:n.*68_*69insTGGG
NM_000388.3:c.*68_*69insTGGG	NP_000379.2:n.*68_*69insTGGG
NM_001178065.1:c.*68_*69insTGGG	NP_001171536.1:n.*68_*69insTGGG
XM_005247836.2:c.*68_*69insTGGG	XP_005247893.1:n.*68_*69insTGGG
XM_005247837.2:c.*68_*69insTGGG	XP_005247894.1:n.*68_*69insTGGG
XM_006713789.2:c.*68_*69insTGGG	XP_006713852.1:n.*68_*69insTGGG
XM_011513237.1:c.*68_*69insTGGG	XP_011511539.1:n.*68_*69insTGGG
XM_011513238.1:c.*68_*69insTGGG	XP_011511540.1:n.*68_*69insTGGG
XM_011513239.1:c.*68_*69insTGGG	XP_011511541.1:n.*68_*69insTGGG
XM_006713789.3:c.*68_*69insTGGG	XP_006713852.1:n.*68_*69insTGGG
XM_017007324.1:c.*68_*69insTGGG	XP_016862813.1:n.*68_*69insTGGG
XM_017007325.1:c.*68_*69insTGGG	XP_016862814.1:n.*68_*69insTGGG
NM_000388.4:c.*68_*69insTGGG MANE Select	NP_000379.3:n.*68_*69insTGGG
NM_001178065.2:c.*68_*69insTGGG	NP_001171536.2:n.*68_*69insTGGG