Canonical Allele Identifier: CA2685915174

Gene: ERICH1

Linked Data

• gnomAD v4: 8-616099-GTTAAAAACAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616100_616109del , CM000670.2:g.616100_616109del	GRCh38
NC_000008.10:g.566100_566109del , CM000670.1:g.566100_566109del	GRCh37
NC_000008.9:g.556100_556109del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-825_977-816del	ENSP00000428635.1:n.977-825_977-816del
ENST00000523415.5:c.2270_2279del
NM_001303100.1:c.*462_*471del	NP_001290029.1:n.*462_*471del
XM_011534732.1:c.1442-825_1442-816del	XP_011533034.1:n.1442-825_1442-816del
XM_011534735.1:c.*1897_*1906del	XP_011533037.1:n.*1897_*1906del
XM_011534735.3:c.*1897_*1906del	XP_011533037.1:n.*1897_*1906del
XM_017013124.2:c.1457-825_1457-816del	XP_016868613.1:n.1457-825_1457-816del
NM_001303100.2:c.*462_*471del	NP_001290029.1:n.*462_*471del