Canonical Allele Identifier: CA775156439

Gene: QRICH2

Linked Data

• dbSNP Id: rs1416939914
• MyVariant Identifiers: chr17:g.74283587_74283588del (hg19) ; chr17:g.76287506_76287507del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76287507_76287508del , CM000679.2:g.76287507_76287508del	GRCh38
NC_000017.10:g.74283588_74283589del , CM000679.1:g.74283588_74283589del	GRCh37
NC_000017.9:g.71795183_71795184del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680821.2:c.3897-201_3897-200del MANE Select	ENSP00000504874.1:n.3897-201_3897-200del
ENST00000262765.10:c.3399-201_3399-200del	ENSP00000262765.5:n.3399-201_3399-200del
ENST00000636395.1:c.3897-201_3897-200del	ENSP00000490761.1:n.3897-201_3897-200del
ENST00000680821.1:c.3897-201_3897-200del	ENSP00000504874.1:n.3897-201_3897-200del
ENST00000262765.9:c.3399-201_3399-200del	ENSP00000262765.5:n.3399-201_3399-200del
ENST00000447564.2:c.423-201_423-200del	ENSP00000394461.2:n.423-201_423-200del
ENST00000524722.1:c.*163-201_*163-200del	ENSP00000432679.1:n.*163-201_*163-200del
NM_032134.2:c.3399-201_3399-200del	NP_115510.1:n.3399-201_3399-200del
NR_130649.1:n.670-201_670-200del
XM_005257728.2:c.3897-201_3897-200del	XP_005257785.1:n.3897-201_3897-200del
XM_006722136.2:c.159-201_159-200del	XP_006722199.1:n.159-201_159-200del
XM_011525344.1:c.3177-201_3177-200del	XP_011523646.1:n.3177-201_3177-200del
XM_005257728.4:c.3897-201_3897-200del	XP_005257785.1:n.3897-201_3897-200del
XM_006722136.3:c.159-201_159-200del	XP_006722199.1:n.159-201_159-200del
XM_011525344.2:c.3177-201_3177-200del	XP_011523646.1:n.3177-201_3177-200del
XM_017025206.2:c.3897-201_3897-200del	XP_016880695.1:n.3897-201_3897-200del
XM_017025207.2:c.3837-201_3837-200del	XP_016880696.1:n.3837-201_3837-200del
XM_017025208.1:c.-70-201_-70-200del	XP_016880697.1:n.-70-201_-70-200del
NM_001388453.1:c.3897-201_3897-200del MANE Select	NP_001375382.1:n.3897-201_3897-200del
NM_032134.3:c.3897-201_3897-200del	NP_115510.2:n.3897-201_3897-200del
NR_130649.2:n.1266-201_1266-200del