Canonical Allele Identifier: CA1756897539

Gene: ERICH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616074_616081delinsAGCAATGT , CM000670.2:g.616074_616081delinsAGCAATGT	GRCh38
NC_000008.10:g.566074_566081delinsAGCAATGT , CM000670.1:g.566074_566081delinsAGCAATGT	GRCh37
NC_000008.9:g.556074_556081delinsAGCAATGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-797_977-790delinsACATTGCT	ENSP00000428635.1:n.977-797_977-790delinsACATTGCT
ENST00000523415.5:c.2298_2305delinsACATTGCT
NM_001303100.1:c.*490_*497delinsACATTGCT	NP_001290029.1:n.*490_*497delinsACATTGCT
XM_011534732.1:c.1442-797_1442-790delinsACATTGCT	XP_011533034.1:n.1442-797_1442-790delinsACATTGCT
XM_011534735.1:c.*1925_*1932delinsACATTGCT	XP_011533037.1:n.*1925_*1932delinsACATTGCT
XM_011534735.3:c.*1925_*1932delinsACATTGCT	XP_011533037.1:n.*1925_*1932delinsACATTGCT
XM_017013124.2:c.1457-797_1457-790delinsACATTGCT	XP_016868613.1:n.1457-797_1457-790delinsACATTGCT
NM_001303100.2:c.*490_*497delinsACATTGCT	NP_001290029.1:n.*490_*497delinsACATTGCT