Canonical Allele Identifier: CA1041239019

Gene: CASP10

Linked Data

• dbSNP Id: rs1945328240
• gnomAD v3: 2-201209540-CATCTGAAGAA-C
• gnomAD v4: 2-201209540-CATCTGAAGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209543_201209552del , CM000664.2:g.201209543_201209552del	GRCh38
NC_000002.11:g.202074266_202074275del , CM000664.1:g.202074266_202074275del	GRCh37
NC_000002.10:g.201782511_201782520del	NCBI36
NG_007265.1:g.31412_31421del , LRG_33:g.31412_31421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.1195_1204del	ENSP00000314599.7:p.Leu399TrpfsTer19
ENST00000346817.10:c.1267_1276del	ENSP00000237865.7:p.Leu423TrpfsTer19
ENST00000438843.6:c.*853_*862del	ENSP00000401914.1:n.*853_*862del
ENST00000492363.6:c.*482_*491del	ENSP00000512459.1:n.*482_*491del
ENST00000696199.1:c.721+5777_721+5786del	ENSP00000512481.1:n.721+5777_721+5786del
ENST00000286186.11:c.1396_1405del MANE Select	ENSP00000286186.6:p.Leu466TrpfsTer19
ENST00000272879.9:c.1396_1405del	ENSP00000272879.5:p.Leu466TrpfsTer6
ENST00000286186.10:c.1396_1405del	ENSP00000286186.6:p.Leu466TrpfsTer19
ENST00000313728.11:c.1195_1204del	ENSP00000314599.7:p.Leu399TrpfsTer19
ENST00000346817.9:c.1267_1276del	ENSP00000237865.7:p.Leu423TrpfsTer19
ENST00000360132.7:c.*482_*491del	ENSP00000353250.3:n.*482_*491del
ENST00000448480.1:c.1267_1276del	ENSP00000396835.1:p.Leu423TrpfsTer6
ENST00000492363.5:n.1304_1313del
NM_001206524.1:c.1195_1204del	NP_001193453.1:p.Leu399TrpfsTer19
NM_001206542.1:c.1267_1276del	NP_001193471.1:p.Leu423TrpfsTer6
NM_001230.4:c.1267_1276del	NP_001221.2:p.Leu423TrpfsTer19
NM_032974.4:c.1396_1405del	NP_116756.2:p.Leu466TrpfsTer6
NM_032976.3:c.*482_*491del	NP_116758.1:n.*482_*491del
NM_032977.3:c.1396_1405del , LRG_33t1:c.1396_1405del	NP_116759.2:p.Leu466TrpfsTer19
XM_005246907.2:c.1393_1402del	XP_005246964.1:p.Leu465TrpfsTer19
XM_006712796.2:c.646_655del	XP_006712859.1:p.Leu216TrpfsTer19
XM_006712796.3:c.646_655del	XP_006712859.1:p.Leu216TrpfsTer19
NM_001206524.2:c.1195_1204del	NP_001193453.1:p.Leu399TrpfsTer19
NM_001206542.2:c.1267_1276del	NP_001193471.1:p.Leu423TrpfsTer6
NM_001230.5:c.1267_1276del	NP_001221.2:p.Leu423TrpfsTer19
NM_032974.5:c.1396_1405del	NP_116756.2:p.Leu466TrpfsTer6
NM_032977.4:c.1396_1405del MANE Select	NP_116759.2:p.Leu466TrpfsTer19
NM_032976.4:c.*482_*491del	NP_116758.1:n.*482_*491del