Canonical Allele Identifier: CA2685915060

Gene: ERICH1

Linked Data

• gnomAD v4: 8-615921-CCTAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615922_615926del , CM000670.2:g.615922_615926del	GRCh38
NC_000008.10:g.565922_565926del , CM000670.1:g.565922_565926del	GRCh37
NC_000008.9:g.555922_555926del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-642_977-638del	ENSP00000428635.1:n.977-642_977-638del
ENST00000523415.5:c.2453_2457del
NM_001303100.1:c.*645_*649del	NP_001290029.1:n.*645_*649del
XM_011534732.1:c.1442-642_1442-638del	XP_011533034.1:n.1442-642_1442-638del
XM_011534735.1:c.*2080_*2084del	XP_011533037.1:n.*2080_*2084del
XM_011534735.3:c.*2080_*2084del	XP_011533037.1:n.*2080_*2084del
XM_017013124.2:c.1457-642_1457-638del	XP_016868613.1:n.1457-642_1457-638del
NM_001303100.2:c.*645_*649del	NP_001290029.1:n.*645_*649del