Canonical Allele Identifier: CA915950151

Gene: GRN

Linked Data

• ClinVar Variation Id: 805120
• ClinVar RCV Id: RCV000992524 ; RCV002550639
• dbSNP Id: rs1598364961
• gnomAD v3: 17-44351625-CAG-C
• gnomAD v4: 17-44351625-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351626_44351627del , CM000679.2:g.44351626_44351627del	GRCh38
NC_000017.10:g.42428994_42428995del , CM000679.1:g.42428994_42428995del	GRCh37
NC_000017.9:g.39784520_39784521del	NCBI36
NG_007886.1:g.11504_11505del , LRG_661:g.11504_11505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1010_1011del MANE Select	ENSP00000053867.2:p.Gln337ArgfsTer30
ENST00000639447.1:c.1010_1011del	ENSP00000492014.1:p.Gln337ArgfsTer30
ENST00000053867.7:c.1010_1011del	ENSP00000053867.2:p.Gln337ArgfsTer30
ENST00000586443.1:c.451_452del
ENST00000589265.5:c.539_540del	ENSP00000467616.1:p.Gln180ArgfsTer30
ENST00000589923.1:n.268_269del
NM_002087.3:c.1010_1011del	NP_002078.1:p.Gln337ArgfsTer30
XM_005257253.1:c.1010_1011del	XP_005257310.1:p.Gln337ArgfsTer30
XM_024450730.1:c.1010_1011del	XP_024306498.1:p.Gln337ArgfsTer30
NM_002087.4:c.1010_1011del MANE Select	NP_002078.1:p.Gln337ArgfsTer30