Canonical Allele Identifier: CA1109508856

Gene: ERICH1

Linked Data

• dbSNP Id: rs1796872965
• gnomAD v3: 8-615760-C-CACCCATTG
• gnomAD v4: 8-615760-C-CACCCATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615761_615768dup , CM000670.2:g.615761_615768dup	GRCh38
NC_000008.10:g.565761_565768dup , CM000670.1:g.565761_565768dup	GRCh37
NC_000008.9:g.555761_555768dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-484_977-477dup	ENSP00000428635.1:n.977-484_977-477dup
ENST00000523415.5:c.2611_2618dup
NM_001303100.1:c.*803_*810dup	NP_001290029.1:n.*803_*810dup
XM_011534732.1:c.1442-484_1442-477dup	XP_011533034.1:n.1442-484_1442-477dup
XM_011534735.1:c.*2238_*2245dup	XP_011533037.1:n.*2238_*2245dup
XM_011534735.3:c.*2238_*2245dup	XP_011533037.1:n.*2238_*2245dup
XM_017013124.2:c.1457-484_1457-477dup	XP_016868613.1:n.1457-484_1457-477dup
NM_001303100.2:c.*803_*810dup	NP_001290029.1:n.*803_*810dup