Canonical Allele Identifier: CA539377221

Gene: CASP10

Linked Data

• dbSNP Id: rs1559309872
• gnomAD v2: 2-202074254-CTG-C
• gnomAD v4: 2-201209531-CTG-C
• MyVariant Identifiers: chr2:g.202074255_202074256del (hg19) ; chr2:g.201209532_201209533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209535_201209536del , CM000664.2:g.201209535_201209536del	GRCh38
NC_000002.11:g.202074258_202074259del , CM000664.1:g.202074258_202074259del	GRCh37
NC_000002.10:g.201782503_201782504del	NCBI36
NG_007265.1:g.31404_31405del , LRG_33:g.31404_31405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.1187_1188del	ENSP00000314599.7:p.Cys396Ter
ENST00000346817.10:c.1259_1260del	ENSP00000237865.7:p.Cys420Ter
ENST00000438843.6:c.*845_*846del	ENSP00000401914.1:n.*845_*846del
ENST00000492363.6:c.*474_*475del	ENSP00000512459.1:n.*474_*475del
ENST00000696199.1:c.721+5769_721+5770del	ENSP00000512481.1:n.721+5769_721+5770del
ENST00000286186.11:c.1388_1389del MANE Select	ENSP00000286186.6:p.Cys463Ter
ENST00000272879.9:c.1388_1389del	ENSP00000272879.5:p.Cys463Ter
ENST00000286186.10:c.1388_1389del	ENSP00000286186.6:p.Cys463Ter
ENST00000313728.11:c.1187_1188del	ENSP00000314599.7:p.Cys396Ter
ENST00000346817.9:c.1259_1260del	ENSP00000237865.7:p.Cys420Ter
ENST00000360132.7:c.*474_*475del	ENSP00000353250.3:n.*474_*475del
ENST00000448480.1:c.1259_1260del	ENSP00000396835.1:p.Cys420Ter
ENST00000492363.5:n.1296_1297del
NM_001206524.1:c.1187_1188del	NP_001193453.1:p.Cys396Ter
NM_001206542.1:c.1259_1260del	NP_001193471.1:p.Cys420Ter
NM_001230.4:c.1259_1260del	NP_001221.2:p.Cys420Ter
NM_032974.4:c.1388_1389del	NP_116756.2:p.Cys463Ter
NM_032976.3:c.*474_*475del	NP_116758.1:n.*474_*475del
NM_032977.3:c.1388_1389del , LRG_33t1:c.1388_1389del	NP_116759.2:p.Cys463Ter
XM_005246907.2:c.1385_1386del	XP_005246964.1:p.Cys462Ter
XM_006712796.2:c.638_639del	XP_006712859.1:p.Cys213Ter
XM_006712796.3:c.638_639del	XP_006712859.1:p.Cys213Ter
NM_001206524.2:c.1187_1188del	NP_001193453.1:p.Cys396Ter
NM_001206542.2:c.1259_1260del	NP_001193471.1:p.Cys420Ter
NM_001230.5:c.1259_1260del	NP_001221.2:p.Cys420Ter
NM_032974.5:c.1388_1389del	NP_116756.2:p.Cys463Ter
NM_032977.4:c.1388_1389del MANE Select	NP_116759.2:p.Cys463Ter
NM_032976.4:c.*474_*475del	NP_116758.1:n.*474_*475del