Canonical Allele Identifier: CA5696131
Gene: CASP7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113679884_113679885del , CM000672.2:g.113679884_113679885del GRCh38
NC_000010.10:g.115439643_115439644del , CM000672.1:g.115439643_115439644del GRCh37
NC_000010.9:g.115429633_115429634del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000345633.8:c.-169_-168del ENSP00000298701.7:n.-169_-168del
ENST00000369318.7:c.-95_-94del ENSP00000358324.3:n.-95_-94del
ENST00000369321.6:c.130_131del ENSP00000358327.3:p.Leu44SerfsTer?
ENST00000369331.8:c.-1+535_-1+536del ENSP00000358337.3:n.-1+535_-1+536del
ENST00000429617.5:c.-1+535_-1+536del ENSP00000400094.1:n.-1+535_-1+536del
ENST00000614447.4:c.-95_-94del ENSP00000478285.1:n.-95_-94del
ENST00000621345.4:c.-1+535_-1+536del ENSP00000480584.1:n.-1+535_-1+536del
NM_001227.4:c.-95_-94del NP_001218.1:n.-95_-94del
NM_001267056.1:c.-1+535_-1+536del NP_001253985.1:n.-1+535_-1+536del
NM_001267057.1:c.130_131del NP_001253986.1:p.Leu44SerfsTer?
NM_033338.5:c.-103_-102del NP_203124.1:n.-103_-102del
NM_033339.4:c.-169_-168del NP_203125.1:n.-169_-168del
NM_033340.3:c.-1+535_-1+536del NP_203126.1:n.-1+535_-1+536del
XM_006718018.1:c.-8+535_-8+536del XP_006718081.1:n.-8+535_-8+536del
NM_001320911.1:c.-8+535_-8+536del NP_001307840.1:n.-8+535_-8+536del
NM_001320911.2:c.-8+535_-8+536del NP_001307840.1:n.-8+535_-8+536del
NM_033340.4:c.-1+535_-1+536del NP_203126.1:n.-1+535_-1+536del
NM_001267056.2:c.-1+535_-1+536del NP_001253985.1:n.-1+535_-1+536del