Canonical Allele Identifier: CA2685914947

Gene: ERICH1

Linked Data

• gnomAD v4: 8-615758-A-ATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615758_615759insTCT , CM000670.2:g.615758_615759insTCT	GRCh38
NC_000008.10:g.565758_565759insTCT , CM000670.1:g.565758_565759insTCT	GRCh37
NC_000008.9:g.555758_555759insTCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-475_977-474insAGA	ENSP00000428635.1:n.977-475_977-474insAGA
ENST00000523415.5:c.2620_2621insAGA
NM_001303100.1:c.*812_*813insAGA	NP_001290029.1:n.*812_*813insAGA
XM_011534732.1:c.1442-475_1442-474insAGA	XP_011533034.1:n.1442-475_1442-474insAGA
XM_011534735.1:c.*2247_*2248insAGA	XP_011533037.1:n.*2247_*2248insAGA
XM_011534735.3:c.*2247_*2248insAGA	XP_011533037.1:n.*2247_*2248insAGA
XM_017013124.2:c.1457-475_1457-474insAGA	XP_016868613.1:n.1457-475_1457-474insAGA
NM_001303100.2:c.*812_*813insAGA	NP_001290029.1:n.*812_*813insAGA