Canonical Allele Identifier: CA626224176

Gene: GRN

Linked Data

• dbSNP Id: rs1163193342
• gnomAD v2: 17-42429095-AGC-A
• gnomAD v3: 17-44351727-AGC-A
• gnomAD v4: 17-44351727-AGC-A
• MyVariant Identifiers: chr17:g.42429096_42429097del (hg19) ; chr17:g.44351728_44351729del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351728_44351729del , CM000679.2:g.44351728_44351729del	GRCh38
NC_000017.10:g.42429096_42429097del , CM000679.1:g.42429096_42429097del	GRCh37
NC_000017.9:g.39784622_39784623del	NCBI36
NG_007886.1:g.11606_11607del , LRG_661:g.11606_11607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1112_1113del MANE Select	ENSP00000053867.2:p.Ser371MetfsTer?
ENST00000639447.1:c.1112_1113del	ENSP00000492014.1:p.Ser371MetfsTer28
ENST00000053867.7:c.1112_1113del	ENSP00000053867.2:p.Ser371MetfsTer?
ENST00000586443.1:c.553_554del
ENST00000589265.5:c.641_642del	ENSP00000467616.1:p.Ser214MetfsTer?
ENST00000589923.1:n.370_371del
NM_002087.3:c.1112_1113del	NP_002078.1:p.Ser371MetfsTer?
XM_005257253.1:c.1112_1113del	XP_005257310.1:p.Ser371MetfsTer?
XM_024450730.1:c.1112_1113del	XP_024306498.1:p.Ser371MetfsTer?
NM_002087.4:c.1112_1113del MANE Select	NP_002078.1:p.Ser371MetfsTer?