Canonical Allele Identifier: CA986397615

Gene: QRICH2

Linked Data

• dbSNP Id: rs2070912961
• gnomAD v3: 17-76287534-AGTT-A
• gnomAD v4: 17-76287534-AGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76287537_76287539del , CM000679.2:g.76287537_76287539del	GRCh38
NC_000017.10:g.74283618_74283620del , CM000679.1:g.74283618_74283620del	GRCh37
NC_000017.9:g.71795213_71795215del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680821.2:c.3897-231_3897-229del MANE Select	ENSP00000504874.1:n.3897-231_3897-229del
ENST00000262765.10:c.3399-231_3399-229del	ENSP00000262765.5:n.3399-231_3399-229del
ENST00000636395.1:c.3897-231_3897-229del	ENSP00000490761.1:n.3897-231_3897-229del
ENST00000680821.1:c.3897-231_3897-229del	ENSP00000504874.1:n.3897-231_3897-229del
ENST00000262765.9:c.3399-231_3399-229del	ENSP00000262765.5:n.3399-231_3399-229del
ENST00000447564.2:c.423-231_423-229del	ENSP00000394461.2:n.423-231_423-229del
ENST00000524722.1:c.*163-231_*163-229del	ENSP00000432679.1:n.*163-231_*163-229del
NM_032134.2:c.3399-231_3399-229del	NP_115510.1:n.3399-231_3399-229del
NR_130649.1:n.670-231_670-229del
XM_005257728.2:c.3897-231_3897-229del	XP_005257785.1:n.3897-231_3897-229del
XM_006722136.2:c.159-231_159-229del	XP_006722199.1:n.159-231_159-229del
XM_011525344.1:c.3177-231_3177-229del	XP_011523646.1:n.3177-231_3177-229del
XM_005257728.4:c.3897-231_3897-229del	XP_005257785.1:n.3897-231_3897-229del
XM_006722136.3:c.159-231_159-229del	XP_006722199.1:n.159-231_159-229del
XM_011525344.2:c.3177-231_3177-229del	XP_011523646.1:n.3177-231_3177-229del
XM_017025206.2:c.3897-231_3897-229del	XP_016880695.1:n.3897-231_3897-229del
XM_017025207.2:c.3837-231_3837-229del	XP_016880696.1:n.3837-231_3837-229del
XM_017025208.1:c.-70-231_-70-229del	XP_016880697.1:n.-70-231_-70-229del
NM_001388453.1:c.3897-231_3897-229del MANE Select	NP_001375382.1:n.3897-231_3897-229del
NM_032134.3:c.3897-231_3897-229del	NP_115510.2:n.3897-231_3897-229del
NR_130649.2:n.1266-231_1266-229del