Canonical Allele Identifier: CA2685915281

Gene: ERICH1

Linked Data

• gnomAD v4: 8-616228-GTTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616230_616233del , CM000670.2:g.616230_616233del	GRCh38
NC_000008.10:g.566230_566233del , CM000670.1:g.566230_566233del	GRCh37
NC_000008.9:g.556230_556233del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000522706.5:c.977-948_977-945del	ENSP00000428635.1:n.977-948_977-945del
ENST00000523415.5:c.2147_2150del
NM_001303100.1:c.*339_*342del	NP_001290029.1:n.*339_*342del
XM_011534732.1:c.1442-948_1442-945del	XP_011533034.1:n.1442-948_1442-945del
XM_011534735.1:c.*1774_*1777del	XP_011533037.1:n.*1774_*1777del
XM_011534735.3:c.*1774_*1777del	XP_011533037.1:n.*1774_*1777del
XM_017013124.2:c.1457-948_1457-945del	XP_016868613.1:n.1457-948_1457-945del
NM_001303100.2:c.*339_*342del	NP_001290029.1:n.*339_*342del