Allele Registry

Canonical Allele Identifier: CA521287080

Gene: CASP9 HGNC NCBI

MyVariant.info:

GRCh38 chr1:g.15524569_15524570insTCCCCGCACTGACCTCACGTCCCCGCACTGACCTCACG

GRCh37 chr1:g.15851064_15851065insTCCCCGCACTGACCTCACGTCCCCGCACTGACCTCACG

gnomAD v2:

1:15851064 A / ATCCCCGCACTGACCTCACGTCCCCGCACTGACCTCACG

gnomAD v3:

1:15524569 A / ATCCCCGCACTGACCTCACGTCCCCGCACTGACCTCACG

gnomAD v4:

chr1-15524569-A-ATCCCCGCACTGACCTCACGTCCCCGCACTGACCTCACG

dbSNP:

4645982

HGVS	Genome Assembly
NC_000001.11:g.15524590_15524591insCCCGCACTGACCTCACGTCCCCGCACTGACCTCACGTC , CM000663.2:g.15524590_15524591insCCCGCACTGACCTCACGTCCCCGCACTGACCTCACGTC	GRCh38
NC_000001.10:g.15851085_15851086insCCCGCACTGACCTCACGTCCCCGCACTGACCTCACGTC , CM000663.1:g.15851085_15851086insCCCGCACTGACCTCACGTCCCCGCACTGACCTCACGTC	GRCh37
NC_000001.9:g.15723672_15723673insCCCGCACTGACCTCACGTCCCCGCACTGACCTCACGTC	NCBI36
NG_029188.1:g.5221_5222insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA

HGVS	Amino-acid Change
ENST00000375890.8:c.-118+13_-118+14insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA
ENST00000447522.5:c.-118+282_-118+283insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA	ENSP00000396540.1:n.-118+282_-118+283insCGTGAGGTCAGTGCGGGGACG...
ENST00000469637.1:c.-239+1621_-239+1622insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA	ENSP00000480785.1:n.-239+1621_-239+1622insCGTGAGGTCAGTGCGGGGA...
NM_032996.3:c.-118+13_-118+14insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA
XM_005246014.2:c.-118+282_-118+283insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA	XP_005246071.1:n.-118+282_-118+283insCGTGAGGTCAGTGCGGGGACGTGA...
XM_011542272.1:c.-118+1621_-118+1622insCGTGAGGTCAGTGCGGGGACGTGAGGTCAGTGCGGGGA	XP_011540574.1:n.-118+1621_-118+1622insCGTGAGGTCAGTGCGGGGACGT...