Canonical Allele Identifier: CA2685915171

Gene: ERICH1

Linked Data

• gnomAD v4: 8-616094-AGTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616097_616100del , CM000670.2:g.616097_616100del	GRCh38
NC_000008.10:g.566097_566100del , CM000670.1:g.566097_566100del	GRCh37
NC_000008.9:g.556097_556100del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-814_977-811del	ENSP00000428635.1:n.977-814_977-811del
ENST00000523415.5:c.2281_2284del
NM_001303100.1:c.*473_*476del	NP_001290029.1:n.*473_*476del
XM_011534732.1:c.1442-814_1442-811del	XP_011533034.1:n.1442-814_1442-811del
XM_011534735.1:c.*1908_*1911del	XP_011533037.1:n.*1908_*1911del
XM_011534735.3:c.*1908_*1911del	XP_011533037.1:n.*1908_*1911del
XM_017013124.2:c.1457-814_1457-811del	XP_016868613.1:n.1457-814_1457-811del
NM_001303100.2:c.*473_*476del	NP_001290029.1:n.*473_*476del