Canonical Allele Identifier: CA170202140

Gene: ERICH1

Linked Data

• dbSNP Id: rs543777086
• gnomAD v3: 8-616018-GAC-G
• gnomAD v4: 8-616018-GAC-G
• MyVariant Identifiers: chr8:g.566019_566020del (hg19) ; chr8:g.616019_616020del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616028_616029del , CM000670.2:g.616028_616029del	GRCh38
NC_000008.10:g.566028_566029del , CM000670.1:g.566028_566029del	GRCh37
NC_000008.9:g.556028_556029del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000522706.5:c.977-736_977-735del	ENSP00000428635.1:n.977-736_977-735del
ENST00000523415.5:c.2359_2360del
NM_001303100.1:c.*551_*552del	NP_001290029.1:n.*551_*552del
XM_011534732.1:c.1442-736_1442-735del	XP_011533034.1:n.1442-736_1442-735del
XM_011534735.1:c.*1986_*1987del	XP_011533037.1:n.*1986_*1987del
XM_011534735.3:c.*1986_*1987del	XP_011533037.1:n.*1986_*1987del
XM_017013124.2:c.1457-736_1457-735del	XP_016868613.1:n.1457-736_1457-735del
NM_001303100.2:c.*551_*552del	NP_001290029.1:n.*551_*552del