Canonical Allele Identifier: CA2685914925

Gene: ERICH1

Linked Data

• gnomAD v4: 8-615727-TCGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615728_615731del , CM000670.2:g.615728_615731del	GRCh38
NC_000008.10:g.565728_565731del , CM000670.1:g.565728_565731del	GRCh37
NC_000008.9:g.555728_555731del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-447_977-444del	ENSP00000428635.1:n.977-447_977-444del
ENST00000523415.5:c.2648_2651del
NM_001303100.1:c.*840_*843del	NP_001290029.1:n.*840_*843del
XM_011534732.1:c.1442-447_1442-444del	XP_011533034.1:n.1442-447_1442-444del
XM_011534735.1:c.*2275_*2278del	XP_011533037.1:n.*2275_*2278del
XM_011534735.3:c.*2275_*2278del	XP_011533037.1:n.*2275_*2278del
XM_017013124.2:c.1457-447_1457-444del	XP_016868613.1:n.1457-447_1457-444del
NM_001303100.2:c.*840_*843del	NP_001290029.1:n.*840_*843del