Canonical Allele Identifier: CA1756897529

Gene: ERICH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616063_616064delinsAC , CM000670.2:g.616063_616064delinsAC	GRCh38
NC_000008.10:g.566063_566064delinsAC , CM000670.1:g.566063_566064delinsAC	GRCh37
NC_000008.9:g.556063_556064delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-780_977-779delinsGT	ENSP00000428635.1:n.977-780_977-779delinsGT
ENST00000523415.5:c.2315_2316delinsGT
NM_001303100.1:c.*507_*508delinsGT	NP_001290029.1:n.*507_*508delinsGT
XM_011534732.1:c.1442-780_1442-779delinsGT	XP_011533034.1:n.1442-780_1442-779delinsGT
XM_011534735.1:c.*1942_*1943delinsGT	XP_011533037.1:n.*1942_*1943delinsGT
XM_011534735.3:c.*1942_*1943delinsGT	XP_011533037.1:n.*1942_*1943delinsGT
XM_017013124.2:c.1457-780_1457-779delinsGT	XP_016868613.1:n.1457-780_1457-779delinsGT
NM_001303100.2:c.*507_*508delinsGT	NP_001290029.1:n.*507_*508delinsGT