Canonical Allele Identifier: CA2685914943

Gene: ERICH1

Linked Data

• gnomAD v4: 8-615754-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615754_615755insCC , CM000670.2:g.615754_615755insCC	GRCh38
NC_000008.10:g.565754_565755insCC , CM000670.1:g.565754_565755insCC	GRCh37
NC_000008.9:g.555754_555755insCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-471_977-470insGG	ENSP00000428635.1:n.977-471_977-470insGG
ENST00000523415.5:c.2624_2625insGG
NM_001303100.1:c.*816_*817insGG	NP_001290029.1:n.*816_*817insGG
XM_011534732.1:c.1442-471_1442-470insGG	XP_011533034.1:n.1442-471_1442-470insGG
XM_011534735.1:c.*2251_*2252insGG	XP_011533037.1:n.*2251_*2252insGG
XM_011534735.3:c.*2251_*2252insGG	XP_011533037.1:n.*2251_*2252insGG
XM_017013124.2:c.1457-471_1457-470insGG	XP_016868613.1:n.1457-471_1457-470insGG
NM_001303100.2:c.*816_*817insGG	NP_001290029.1:n.*816_*817insGG