Canonical Allele Identifier: CA626224180

Gene: GRN

Linked Data

• dbSNP Id: rs1307864120
• gnomAD v2: 17-42429123-AACT-A
• gnomAD v3: 17-44351755-AACT-A
• gnomAD v4: 17-44351755-AACT-A
• MyVariant Identifiers: chr17:g.42429124_42429126del (hg19) ; chr17:g.44351756_44351758del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351756_44351758del , CM000679.2:g.44351756_44351758del	GRCh38
NC_000017.10:g.42429124_42429126del , CM000679.1:g.42429124_42429126del	GRCh37
NC_000017.9:g.39784650_39784652del	NCBI36
NG_007886.1:g.11634_11636del , LRG_661:g.11634_11636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1140_1142del MANE Select	ENSP00000053867.2:p.Gln380_Leu381delinsHis
ENST00000639447.1:c.1136+4_1136+6del	ENSP00000492014.1:n.1136+4_1136+6del
ENST00000053867.7:c.1140_1142del	ENSP00000053867.2:p.Gln380_Leu381delinsHis
ENST00000586443.1:c.581_583del
ENST00000589265.5:c.669_671del	ENSP00000467616.1:p.Gln223_Leu224delinsHis
ENST00000589923.1:n.398_400del
NM_002087.3:c.1140_1142del	NP_002078.1:p.Gln380_Leu381delinsHis
XM_005257253.1:c.1140_1142del	XP_005257310.1:p.Gln380_Leu381delinsHis
XM_024450730.1:c.1140_1142del	XP_024306498.1:p.Gln380_Leu381delinsHis
NM_002087.4:c.1140_1142del MANE Select	NP_002078.1:p.Gln380_Leu381delinsHis