Canonical Allele Identifier: CA225523

Gene: GRN

Linked Data

• ClinVar Variation Id: 98247
• ClinVar RCV Id: RCV000084586
• dbSNP Id: rs63749988
• gnomAD v4: 17-44351710-CCT-C
• MyVariant Identifiers: chr17:g.42429079_42429080del (hg19) ; chr17:g.44351711_44351712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351711_44351712del , CM000679.2:g.44351711_44351712del	GRCh38
NC_000017.10:g.42429079_42429080del , CM000679.1:g.42429079_42429080del	GRCh37
NC_000017.9:g.39784605_39784606del	NCBI36
NG_007886.1:g.11589_11590del , LRG_661:g.11589_11590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1095_1096del MANE Select	ENSP00000053867.2:p.Cys366Ter
ENST00000639447.1:c.1095_1096del	ENSP00000492014.1:p.Cys366Ter
ENST00000053867.7:c.1095_1096del	ENSP00000053867.2:p.Cys366Ter
ENST00000586443.1:c.536_537del
ENST00000589265.5:c.624_625del	ENSP00000467616.1:p.Cys209Ter
ENST00000589923.1:n.353_354del
NM_002087.3:c.1095_1096del	NP_002078.1:p.Cys366Ter
XM_005257253.1:c.1095_1096del	XP_005257310.1:p.Cys366Ter
XM_024450730.1:c.1095_1096del	XP_024306498.1:p.Cys366Ter
NM_002087.4:c.1095_1096del MANE Select	NP_002078.1:p.Cys366Ter