Canonical Allele Identifier: CA2638210586

Gene: GRN

Linked Data

• gnomAD v4: 17-44352187-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352189del , CM000679.2:g.44352189del	GRCh38
NC_000017.10:g.42429557del , CM000679.1:g.42429557del	GRCh37
NC_000017.9:g.39785083del	NCBI36
NG_007886.1:g.12067del , LRG_661:g.12067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1354del MANE Select	ENSP00000053867.2:p.Val452TrpfsTer?
ENST00000639447.1:c.1137-340del	ENSP00000492014.1:n.1137-340del
ENST00000053867.7:c.1354del	ENSP00000053867.2:p.Val452TrpfsTer?
ENST00000586443.1:c.795del
ENST00000589265.5:c.883del	ENSP00000467616.1:p.Val295TrpfsTer?
NM_002087.3:c.1354del	NP_002078.1:p.Val452TrpfsTer?
XM_005257253.1:c.1354del	XP_005257310.1:p.Val452TrpfsTer?
XM_024450730.1:c.1354del	XP_024306498.1:p.Val452TrpfsTer?
NM_002087.4:c.1354del MANE Select	NP_002078.1:p.Val452TrpfsTer?