Canonical Allele Identifier: CA626224178

Gene: GRN

Linked Data

• dbSNP Id: rs1168520227
• gnomAD v2: 17-42429100-TCCCTCCTCCG-T
• gnomAD v3: 17-44351732-TCCCTCCTCCG-T
• gnomAD v4: 17-44351732-TCCCTCCTCCG-T
• MyVariant Identifiers: chr17:g.42429101_42429110del (hg19) ; chr17:g.44351733_44351742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351733_44351742del , CM000679.2:g.44351733_44351742del	GRCh38
NC_000017.10:g.42429101_42429110del , CM000679.1:g.42429101_42429110del	GRCh37
NC_000017.9:g.39784627_39784636del	NCBI36
NG_007886.1:g.11611_11620del , LRG_661:g.11611_11620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1117_1126del MANE Select	ENSP00000053867.2:p.Pro373IlefsTer?
ENST00000639447.1:c.1117_1126del	ENSP00000492014.1:p.Pro373IlefsTer?
ENST00000053867.7:c.1117_1126del	ENSP00000053867.2:p.Pro373IlefsTer?
ENST00000586443.1:c.558_567del
ENST00000589265.5:c.646_655del	ENSP00000467616.1:p.Pro216IlefsTer?
ENST00000589923.1:n.375_384del
NM_002087.3:c.1117_1126del	NP_002078.1:p.Pro373IlefsTer?
XM_005257253.1:c.1117_1126del	XP_005257310.1:p.Pro373IlefsTer?
XM_024450730.1:c.1117_1126del	XP_024306498.1:p.Pro373IlefsTer?
NM_002087.4:c.1117_1126del MANE Select	NP_002078.1:p.Pro373IlefsTer?