Canonical Allele Identifier: CA8602112

Gene: GRN

Linked Data

• dbSNP Id: rs780706808
• ExAC: 17:42429136 GGAGTGGGGCTGCTGTCCAATCCCA / G
• gnomAD v2: 17-42429136-GGAGTGGGGCTGCTGTCCAATCCCA-G
• gnomAD v4: 17-44351768-GGAGTGGGGCTGCTGTCCAATCCCA-G
• MyVariant Identifiers: chr17:g.42429137_42429160del (hg19) ; chr17:g.44351769_44351792del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351772_44351795del , CM000679.2:g.44351772_44351795del	GRCh38
NC_000017.10:g.42429140_42429163del , CM000679.1:g.42429140_42429163del	GRCh37
NC_000017.9:g.39784666_39784689del	NCBI36
NG_007886.1:g.11650_11673del , LRG_661:g.11650_11673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1156_1179del MANE Select	ENSP00000053867.2:p.Trp386_Glu393del
ENST00000639447.1:c.1136+20_1136+43del	ENSP00000492014.1:n.1136+20_1136+43del
ENST00000053867.7:c.1156_1179del	ENSP00000053867.2:p.Trp386_Glu393del
ENST00000586443.1:c.597_620del
ENST00000589265.5:c.685_708del	ENSP00000467616.1:p.Trp229_Glu236del
ENST00000589923.1:n.414_437del
NM_002087.3:c.1156_1179del	NP_002078.1:p.Trp386_Glu393del
XM_005257253.1:c.1156_1179del	XP_005257310.1:p.Trp386_Glu393del
XM_024450730.1:c.1156_1179del	XP_024306498.1:p.Trp386_Glu393del
NM_002087.4:c.1156_1179del MANE Select	NP_002078.1:p.Trp386_Glu393del