Canonical Allele Identifier: CA2685914928

Gene: ERICH1

Linked Data

• gnomAD v4: 8-615732-TGAGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615733_615737del , CM000670.2:g.615733_615737del	GRCh38
NC_000008.10:g.565733_565737del , CM000670.1:g.565733_565737del	GRCh37
NC_000008.9:g.555733_555737del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-453_977-449del	ENSP00000428635.1:n.977-453_977-449del
ENST00000523415.5:c.2642_2646del
NM_001303100.1:c.*834_*838del	NP_001290029.1:n.*834_*838del
XM_011534732.1:c.1442-453_1442-449del	XP_011533034.1:n.1442-453_1442-449del
XM_011534735.1:c.*2269_*2273del	XP_011533037.1:n.*2269_*2273del
XM_011534735.3:c.*2269_*2273del	XP_011533037.1:n.*2269_*2273del
XM_017013124.2:c.1457-453_1457-449del	XP_016868613.1:n.1457-453_1457-449del
NM_001303100.2:c.*834_*838del	NP_001290029.1:n.*834_*838del