Canonical Allele Identifier: CA775156496

Gene: QRICH2

Linked Data

• dbSNP Id: rs1434188663
• gnomAD v3: 17-76287694-ACAGTGGT-A
• gnomAD v4: 17-76287694-ACAGTGGT-A
• MyVariant Identifiers: chr17:g.74283776_74283782del (hg19) ; chr17:g.76287695_76287701del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76287696_76287702del , CM000679.2:g.76287696_76287702del	GRCh38
NC_000017.10:g.74283777_74283783del , CM000679.1:g.74283777_74283783del	GRCh37
NC_000017.9:g.71795372_71795378del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680821.2:c.3896+99_3896+105del MANE Select	ENSP00000504874.1:n.3896+99_3896+105del
ENST00000262765.10:c.3398+99_3398+105del	ENSP00000262765.5:n.3398+99_3398+105del
ENST00000636395.1:c.3896+99_3896+105del	ENSP00000490761.1:n.3896+99_3896+105del
ENST00000680821.1:c.3896+99_3896+105del	ENSP00000504874.1:n.3896+99_3896+105del
ENST00000262765.9:c.3398+99_3398+105del	ENSP00000262765.5:n.3398+99_3398+105del
ENST00000447564.2:c.422+99_422+105del	ENSP00000394461.2:n.422+99_422+105del
ENST00000524722.1:c.*162+99_*162+105del	ENSP00000432679.1:n.*162+99_*162+105del
NM_032134.2:c.3398+99_3398+105del	NP_115510.1:n.3398+99_3398+105del
NR_130649.1:n.669+99_669+105del
XM_005257728.2:c.3896+99_3896+105del	XP_005257785.1:n.3896+99_3896+105del
XM_006722136.2:c.158+99_158+105del	XP_006722199.1:n.158+99_158+105del
XM_011525344.1:c.3176+99_3176+105del	XP_011523646.1:n.3176+99_3176+105del
XM_005257728.4:c.3896+99_3896+105del	XP_005257785.1:n.3896+99_3896+105del
XM_006722136.3:c.158+99_158+105del	XP_006722199.1:n.158+99_158+105del
XM_011525344.2:c.3176+99_3176+105del	XP_011523646.1:n.3176+99_3176+105del
XM_017025206.2:c.3896+99_3896+105del	XP_016880695.1:n.3896+99_3896+105del
XM_017025207.2:c.3836+99_3836+105del	XP_016880696.1:n.3836+99_3836+105del
XM_017025208.1:c.-71+99_-71+105del	XP_016880697.1:n.-71+99_-71+105del
NM_001388453.1:c.3896+99_3896+105del MANE Select	NP_001375382.1:n.3896+99_3896+105del
NM_032134.3:c.3896+99_3896+105del	NP_115510.2:n.3896+99_3896+105del
NR_130649.2:n.1265+99_1265+105del