Canonical Allele Identifier: CA2615772284

Gene: CASP5

Linked Data

• gnomAD v4: 11-105007092-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.105007094del , CM000673.2:g.105007094del	GRCh38
NC_000011.9:g.104877821del , CM000673.1:g.104877821del	GRCh37
NC_000011.8:g.104383031del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260315.8:c.423del MANE Select	ENSP00000260315.3:p.Ser142ValfsTer2
ENST00000260315.7:c.423del	ENSP00000260315.3:p.Ser142ValfsTer2
ENST00000393141.6:c.462del	ENSP00000376849.2:p.Ser155ValfsTer2
ENST00000418434.5:c.8-3710del	ENSP00000398130.1:n.8-3710del
ENST00000444749.6:c.249del	ENSP00000388365.2:p.Ser84ValfsTer2
ENST00000456094.1:c.375del	ENSP00000415241.1:p.Ser126ValfsTer2
ENST00000456200.5:c.249del	ENSP00000408455.1:p.Ser84ValfsTer2
ENST00000526056.5:c.462del	ENSP00000436877.1:p.Ser155ValfsTer2
ENST00000531367.5:c.8-3710del	ENSP00000434471.1:n.8-3710del
NM_001136109.1:c.249del	NP_001129581.1:p.Ser84ValfsTer2
NM_001136110.1:c.8-3710del	NP_001129582.1:n.8-3710del
NM_001136112.1:c.462del	NP_001129584.1:p.Ser155ValfsTer2
NM_004347.3:c.423del	NP_004338.3:p.Ser142ValfsTer2
NR_024239.1:n.281del
NR_036562.1:n.40-4892del
XM_011543020.1:c.181+1714del	XP_011541322.1:n.181+1714del
XM_011543021.1:c.423del	XP_011541323.1:p.Ser142ValfsTer2
NM_001136109.2:c.249del	NP_001129581.1:p.Ser84ValfsTer2
NM_001136110.2:c.8-3710del	NP_001129582.1:n.8-3710del
NM_001136112.2:c.462del	NP_001129584.1:p.Ser155ValfsTer2
NM_004347.4:c.423del	NP_004338.3:p.Ser142ValfsTer2
NR_024239.2:n.281del
NR_036562.2:n.40-4892del
XM_011543021.2:c.423del	XP_011541323.1:p.Ser142ValfsTer2
NM_004347.5:c.423del MANE Select	NP_004338.3:p.Ser142ValfsTer2
NM_001136109.3:c.249del	NP_001129581.1:p.Ser84ValfsTer2
NM_001136110.3:c.8-3710del	NP_001129582.1:n.8-3710del
NM_001136112.3:c.462del	NP_001129584.1:p.Ser155ValfsTer2
NR_024239.3:n.281del
NR_036562.3:n.40-4892del