Canonical Allele Identifier: CA225322

Gene: GRN

Linked Data

• ClinVar Variation Id: 98174
• ClinVar RCV Id: RCV000084477
• dbSNP Id: rs63750351
• MyVariant Identifiers: chr17:g.42429434_42429435del (hg19) ; chr17:g.44352066_44352067del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352066_44352067del , CM000679.2:g.44352066_44352067del	GRCh38
NC_000017.10:g.42429434_42429435del , CM000679.1:g.42429434_42429435del	GRCh37
NC_000017.9:g.39784960_39784961del	NCBI36
NG_007886.1:g.11944_11945del , LRG_661:g.11944_11945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1231_1232del MANE Select	ENSP00000053867.2:p.Val411SerfsTer2
ENST00000639447.1:c.1136+314_1136+315del	ENSP00000492014.1:n.1136+314_1136+315del
ENST00000053867.7:c.1231_1232del	ENSP00000053867.2:p.Val411SerfsTer2
ENST00000586443.1:c.672_673del
ENST00000589265.5:c.760_761del	ENSP00000467616.1:p.Val254SerfsTer2
NM_002087.3:c.1231_1232del	NP_002078.1:p.Val411SerfsTer2
XM_005257253.1:c.1231_1232del	XP_005257310.1:p.Val411SerfsTer2
XM_024450730.1:c.1231_1232del	XP_024306498.1:p.Val411SerfsTer2
NM_002087.4:c.1231_1232del MANE Select	NP_002078.1:p.Val411SerfsTer2