Canonical Allele Identifier: CA1756897559

Gene: ERICH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616108_616109delinsAC , CM000670.2:g.616108_616109delinsAC	GRCh38
NC_000008.10:g.566108_566109delinsAC , CM000670.1:g.566108_566109delinsAC	GRCh37
NC_000008.9:g.556108_556109delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-825_977-824delinsGT	ENSP00000428635.1:n.977-825_977-824delinsGT
ENST00000523415.5:c.2270_2271delinsGT
NM_001303100.1:c.*462_*463delinsGT	NP_001290029.1:n.*462_*463delinsGT
XM_011534732.1:c.1442-825_1442-824delinsGT	XP_011533034.1:n.1442-825_1442-824delinsGT
XM_011534735.1:c.*1897_*1898delinsGT	XP_011533037.1:n.*1897_*1898delinsGT
XM_011534735.3:c.*1897_*1898delinsGT	XP_011533037.1:n.*1897_*1898delinsGT
XM_017013124.2:c.1457-825_1457-824delinsGT	XP_016868613.1:n.1457-825_1457-824delinsGT
NM_001303100.2:c.*462_*463delinsGT	NP_001290029.1:n.*462_*463delinsGT