Canonical Allele Identifier: CA595773311

Gene: CASP7

Linked Data

• dbSNP Id: rs1464454067
• gnomAD v2: 10-115457432-T-TGGGGAGGGGGACATTCA
• gnomAD v3: 10-113697673-T-TGGGGAGGGGGACATTCA
• gnomAD v4: 10-113697673-T-TGGGGAGGGGGACATTCA
• MyVariant Identifiers: chr10:g.115457432_115457433insGGGGAGGGGGACATTCA (hg19) ; chr10:g.113697673_113697674insGGGGAGGGGGACATTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113697677_113697693dup , CM000672.2:g.113697677_113697693dup	GRCh38
NC_000010.10:g.115457436_115457452dup , CM000672.1:g.115457436_115457452dup	GRCh37
NC_000010.9:g.115447426_115447442dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369318.8:c.110+74_110+90dup MANE Select	ENSP00000358324.4:n.110+74_110+90dup
ENST00000345633.8:c.110+74_110+90dup	ENSP00000298701.7:n.110+74_110+90dup
ENST00000369315.5:c.110+74_110+90dup	ENSP00000358321.1:n.110+74_110+90dup
ENST00000369318.7:c.110+74_110+90dup	ENSP00000358324.3:n.110+74_110+90dup
ENST00000369321.6:c.334+74_334+90dup	ENSP00000358327.3:n.334+74_334+90dup
ENST00000369331.8:c.110+74_110+90dup	ENSP00000358337.3:n.110+74_110+90dup
ENST00000429617.5:c.110+74_110+90dup	ENSP00000400094.1:n.110+74_110+90dup
ENST00000614447.4:c.110+74_110+90dup	ENSP00000478285.1:n.110+74_110+90dup
ENST00000621345.4:c.110+74_110+90dup	ENSP00000480584.1:n.110+74_110+90dup
ENST00000621607.4:c.209+74_209+90dup	ENSP00000478999.1:n.209+74_209+90dup
NM_001227.4:c.110+74_110+90dup	NP_001218.1:n.110+74_110+90dup
NM_001267056.1:c.110+74_110+90dup	NP_001253985.1:n.110+74_110+90dup
NM_001267057.1:c.334+74_334+90dup	NP_001253986.1:n.334+74_334+90dup
NM_033338.5:c.209+74_209+90dup	NP_203124.1:n.209+74_209+90dup
NM_033339.4:c.110+74_110+90dup	NP_203125.1:n.110+74_110+90dup
NM_033340.3:c.110+74_110+90dup	NP_203126.1:n.110+74_110+90dup
XM_006718017.2:c.121+74_121+90dup	XP_006718080.1:n.121+74_121+90dup
XM_006718018.1:c.103+74_103+90dup	XP_006718081.1:n.103+74_103+90dup
XM_011540259.1:c.209+74_209+90dup	XP_011538561.1:n.209+74_209+90dup
NM_001320911.1:c.103+74_103+90dup	NP_001307840.1:n.103+74_103+90dup
XM_006718017.3:c.121+74_121+90dup	XP_006718080.1:n.121+74_121+90dup
XM_017016763.1:c.167+74_167+90dup	XP_016872252.1:n.167+74_167+90dup
XM_017016764.1:c.103+74_103+90dup	XP_016872253.1:n.103+74_103+90dup
NM_001227.5:c.110+74_110+90dup MANE Select	NP_001218.1:n.110+74_110+90dup
NM_001320911.2:c.103+74_103+90dup	NP_001307840.1:n.103+74_103+90dup
NM_033338.6:c.209+74_209+90dup	NP_203124.1:n.209+74_209+90dup
NM_033339.5:c.110+74_110+90dup	NP_203125.1:n.110+74_110+90dup
NM_033340.4:c.110+74_110+90dup	NP_203126.1:n.110+74_110+90dup
NM_001267056.2:c.110+74_110+90dup	NP_001253985.1:n.110+74_110+90dup