Canonical Allele Identifier: CA1756897332

Gene: ERICH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615729_615730delinsGA , CM000670.2:g.615729_615730delinsGA	GRCh38
NC_000008.10:g.565729_565730delinsGA , CM000670.1:g.565729_565730delinsGA	GRCh37
NC_000008.9:g.555729_555730delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-446_977-445delinsTC	ENSP00000428635.1:n.977-446_977-445delinsTC
ENST00000523415.5:c.2649_2650delinsTC
NM_001303100.1:c.*841_*842delinsTC	NP_001290029.1:n.*841_*842delinsTC
XM_011534732.1:c.1442-446_1442-445delinsTC	XP_011533034.1:n.1442-446_1442-445delinsTC
XM_011534735.1:c.*2276_*2277delinsTC	XP_011533037.1:n.*2276_*2277delinsTC
XM_011534735.3:c.*2276_*2277delinsTC	XP_011533037.1:n.*2276_*2277delinsTC
XM_017013124.2:c.1457-446_1457-445delinsTC	XP_016868613.1:n.1457-446_1457-445delinsTC
NM_001303100.2:c.*841_*842delinsTC	NP_001290029.1:n.*841_*842delinsTC