Canonical Allele Identifier: CA170202227

Gene: ERICH1

Linked Data

• dbSNP Id: rs947053782
• gnomAD v2: 8-566074-AGCAATGT-A
• gnomAD v3: 8-616074-AGCAATGT-A
• gnomAD v4: 8-616074-AGCAATGT-A
• MyVariant Identifiers: chr8:g.566075_566081del (hg19) ; chr8:g.616075_616081del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616079_616085del , CM000670.2:g.616079_616085del	GRCh38
NC_000008.10:g.566079_566085del , CM000670.1:g.566079_566085del	GRCh37
NC_000008.9:g.556079_556085del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-797_977-791del	ENSP00000428635.1:n.977-797_977-791del
ENST00000523415.5:c.2298_2304del
NM_001303100.1:c.*490_*496del	NP_001290029.1:n.*490_*496del
XM_011534732.1:c.1442-797_1442-791del	XP_011533034.1:n.1442-797_1442-791del
XM_011534735.1:c.*1925_*1931del	XP_011533037.1:n.*1925_*1931del
XM_011534735.3:c.*1925_*1931del	XP_011533037.1:n.*1925_*1931del
XM_017013124.2:c.1457-797_1457-791del	XP_016868613.1:n.1457-797_1457-791del
NM_001303100.2:c.*490_*496del	NP_001290029.1:n.*490_*496del