Canonical Allele Identifier: CA1052944786

Gene: CASR

Linked Data

• gnomAD v3: 3-122284198-GTC-G
• gnomAD v4: 3-122284198-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284199_122284200del , CM000665.2:g.122284199_122284200del	GRCh38
NC_000003.11:g.122003046_122003047del , CM000665.1:g.122003046_122003047del	GRCh37
NC_000003.10:g.123485736_123485737del	NCBI36
NG_009058.1:g.105517_105518del
NG_009058.2:g.105532_105533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2014_2015del	ENSP00000418685.2:p.Ser672LysfsTer10
ENST00000498619.4:c.2275_2276del	ENSP00000420194.1:p.Ser759LysfsTer10
ENST00000638421.1:c.2245_2246del	ENSP00000492190.1:p.Ser749LysfsTer10
ENST00000639785.2:c.2245_2246del MANE Select	ENSP00000491584.2:p.Ser749LysfsTer10
ENST00000490131.5:c.2245_2246del	ENSP00000418685.1:p.Ser749LysfsTer10
ENST00000498619.2:c.2275_2276del	ENSP00000420194.1:p.Ser759LysfsTer10
NM_000388.3:c.2245_2246del	NP_000379.2:p.Ser749LysfsTer10
NM_001178065.1:c.2275_2276del	NP_001171536.1:p.Ser759LysfsTer10
XM_005247836.2:c.2245_2246del	XP_005247893.1:p.Ser749LysfsTer10
XM_005247837.2:c.1762_1763del	XP_005247894.1:p.Ser588LysfsTer10
XM_006713789.2:c.2245_2246del	XP_006713852.1:p.Ser749LysfsTer10
XM_011513237.1:c.2245_2246del	XP_011511539.1:p.Ser749LysfsTer10
XM_011513238.1:c.2245_2246del	XP_011511540.1:p.Ser749LysfsTer10
XM_011513239.1:c.1657_1658del	XP_011511541.1:p.Ser553LysfsTer10
XM_006713789.3:c.2245_2246del	XP_006713852.1:p.Ser749LysfsTer10
XM_017007324.1:c.2245_2246del	XP_016862813.1:p.Ser749LysfsTer10
XM_017007325.1:c.2245_2246del	XP_016862814.1:p.Ser749LysfsTer10
NM_000388.4:c.2245_2246del MANE Select	NP_000379.3:p.Ser749LysfsTer10
NM_001178065.2:c.2275_2276del	NP_001171536.2:p.Ser759LysfsTer10