Canonical Allele Identifier: CA2685915191

Gene: ERICH1

Linked Data

• gnomAD v4: 8-616138-AATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616141_616143del , CM000670.2:g.616141_616143del	GRCh38
NC_000008.10:g.566141_566143del , CM000670.1:g.566141_566143del	GRCh37
NC_000008.9:g.556141_556143del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-857_977-855del	ENSP00000428635.1:n.977-857_977-855del
ENST00000523415.5:c.2238_2240del
NM_001303100.1:c.*430_*432del	NP_001290029.1:n.*430_*432del
XM_011534732.1:c.1442-857_1442-855del	XP_011533034.1:n.1442-857_1442-855del
XM_011534735.1:c.*1865_*1867del	XP_011533037.1:n.*1865_*1867del
XM_011534735.3:c.*1865_*1867del	XP_011533037.1:n.*1865_*1867del
XM_017013124.2:c.1457-857_1457-855del	XP_016868613.1:n.1457-857_1457-855del
NM_001303100.2:c.*430_*432del	NP_001290029.1:n.*430_*432del