Canonical Allele Identifier: CA2685915185

Gene: ERICH1

Linked Data

• gnomAD v4: 8-616120-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616120_616121insC , CM000670.2:g.616120_616121insC	GRCh38
NC_000008.10:g.566120_566121insC , CM000670.1:g.566120_566121insC	GRCh37
NC_000008.9:g.556120_556121insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-837_977-836insG	ENSP00000428635.1:n.977-837_977-836insG
ENST00000523415.5:c.2258_2259insG
NM_001303100.1:c.*450_*451insG	NP_001290029.1:n.*450_*451insG
XM_011534732.1:c.1442-837_1442-836insG	XP_011533034.1:n.1442-837_1442-836insG
XM_011534735.1:c.*1885_*1886insG	XP_011533037.1:n.*1885_*1886insG
XM_011534735.3:c.*1885_*1886insG	XP_011533037.1:n.*1885_*1886insG
XM_017013124.2:c.1457-837_1457-836insG	XP_016868613.1:n.1457-837_1457-836insG
NM_001303100.2:c.*450_*451insG	NP_001290029.1:n.*450_*451insG