Canonical Allele Identifier: CA119062

Gene: CASP10

Linked Data

• ClinVar Variation Id: 7767
• ClinVar RCV Id: RCV000008209
• dbSNP Id: rs398122800
• MyVariant Identifiers: chr2:g.202073912_202073913insA (hg19) ; chr2:g.201209189_201209190insA (hg38)
• PubMed: PMID:12010812

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209189_201209190insA , CM000664.2:g.201209189_201209190insA	GRCh38
NC_000002.11:g.202073912_202073913insA , CM000664.1:g.202073912_202073913insA	GRCh37
NC_000002.10:g.201782157_201782158insA	NCBI36
NG_007265.1:g.31058_31059insA , LRG_33:g.31058_31059insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.841_842insA	ENSP00000314599.7:p.Gly281GlufsTer22
ENST00000346817.10:c.913_914insA	ENSP00000237865.7:p.Gly305GlufsTer22
ENST00000438843.6:c.*499_*500insA	ENSP00000401914.1:n.*499_*500insA
ENST00000492363.6:c.*128_*129insA	ENSP00000512459.1:n.*128_*129insA
ENST00000696199.1:c.721+5423_721+5424insA	ENSP00000512481.1:n.721+5423_721+5424insA
ENST00000286186.11:c.1042_1043insA MANE Select	ENSP00000286186.6:p.Gly348GlufsTer22
ENST00000272879.9:c.1042_1043insA	ENSP00000272879.5:p.Gly348GlufsTer22
ENST00000286186.10:c.1042_1043insA	ENSP00000286186.6:p.Gly348GlufsTer22
ENST00000313728.11:c.841_842insA	ENSP00000314599.7:p.Gly281GlufsTer22
ENST00000346817.9:c.913_914insA	ENSP00000237865.7:p.Gly305GlufsTer22
ENST00000360132.7:c.*128_*129insA	ENSP00000353250.3:n.*128_*129insA
ENST00000448480.1:c.913_914insA	ENSP00000396835.1:p.Gly305GlufsTer22
ENST00000492363.5:n.950_951insA
NM_001206524.1:c.841_842insA	NP_001193453.1:p.Gly281GlufsTer22
NM_001206542.1:c.913_914insA	NP_001193471.1:p.Gly305GlufsTer22
NM_001230.4:c.913_914insA	NP_001221.2:p.Gly305GlufsTer22
NM_032974.4:c.1042_1043insA	NP_116756.2:p.Gly348GlufsTer22
NM_032976.3:c.*128_*129insA	NP_116758.1:n.*128_*129insA
NM_032977.3:c.1042_1043insA , LRG_33t1:c.1042_1043insA	NP_116759.2:p.Gly348GlufsTer22
XM_005246907.2:c.1039_1040insA	XP_005246964.1:p.Gly347GlufsTer22
XM_006712796.2:c.292_293insA	XP_006712859.1:p.Gly98GlufsTer22
XM_006712796.3:c.292_293insA	XP_006712859.1:p.Gly98GlufsTer22
NM_001206524.2:c.841_842insA	NP_001193453.1:p.Gly281GlufsTer22
NM_001206542.2:c.913_914insA	NP_001193471.1:p.Gly305GlufsTer22
NM_001230.5:c.913_914insA	NP_001221.2:p.Gly305GlufsTer22
NM_032974.5:c.1042_1043insA	NP_116756.2:p.Gly348GlufsTer22
NM_032977.4:c.1042_1043insA MANE Select	NP_116759.2:p.Gly348GlufsTer22
NM_032976.4:c.*128_*129insA	NP_116758.1:n.*128_*129insA