Canonical Allele Identifier: CA626224249

Gene: GRN

Linked Data

• dbSNP Id: rs1298956171
• gnomAD v2: 17-42429573-GC-G
• gnomAD v4: 17-44352205-GC-G
• MyVariant Identifiers: chr17:g.42429574del (hg19) ; chr17:g.44352206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352208del , CM000679.2:g.44352208del	GRCh38
NC_000017.10:g.42429576del , CM000679.1:g.42429576del	GRCh37
NC_000017.9:g.39785102del	NCBI36
NG_007886.1:g.12086del , LRG_661:g.12086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1373del MANE Select	ENSP00000053867.2:p.Pro458ArgfsTer?
ENST00000639447.1:c.1137-321del	ENSP00000492014.1:n.1137-321del
ENST00000053867.7:c.1373del	ENSP00000053867.2:p.Pro458ArgfsTer?
ENST00000586242.1:c.7del
ENST00000586443.1:c.814del
ENST00000589265.5:c.902del	ENSP00000467616.1:p.Pro301ArgfsTer?
NM_002087.3:c.1373del	NP_002078.1:p.Pro458ArgfsTer?
XM_005257253.1:c.1373del	XP_005257310.1:p.Pro458ArgfsTer?
XM_024450730.1:c.1373del	XP_024306498.1:p.Pro458ArgfsTer?
NM_002087.4:c.1373del MANE Select	NP_002078.1:p.Pro458ArgfsTer?