Canonical Allele Identifier: CA225214

Gene: GRN

Linked Data

• ClinVar Variation Id: 98127
• ClinVar RCV Id: RCV000084429 ; RCV002281920
• dbSNP Id: rs63751092
• MyVariant Identifiers: chr17:g.42426809del (hg19) ; chr17:g.44349441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44349441del , CM000679.2:g.44349441del	GRCh38
NC_000017.10:g.42426809del , CM000679.1:g.42426809del	GRCh37
NC_000017.9:g.39782335del	NCBI36
NG_007886.1:g.9319del , LRG_661:g.9319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.154del MANE Select	ENSP00000053867.2:p.Thr52HisfsTer2
ENST00000639447.1:c.154del	ENSP00000492014.1:p.Thr52HisfsTer2
ENST00000053867.7:c.154del	ENSP00000053867.2:p.Thr52HisfsTer2
ENST00000586782.5:c.154del	ENSP00000468318.1:p.Thr52HisfsTer2
ENST00000587109.5:c.154del	ENSP00000466271.1:p.Thr52HisfsTer2
ENST00000587387.5:c.154del	ENSP00000467431.1:p.Thr52HisfsTer2
ENST00000587518.5:c.154del	ENSP00000465518.1:p.Thr52HisfsTer2
ENST00000587958.1:n.190del
ENST00000588143.5:c.154del	ENSP00000465375.1:p.Thr52HisfsTer2
ENST00000588170.5:n.250del
ENST00000588237.5:c.154del	ENSP00000466611.1:p.Thr52HisfsTer2
ENST00000589265.5:c.154del	ENSP00000467616.1:p.Thr52HisfsTer2
ENST00000589536.5:c.154del	ENSP00000466956.1:p.Thr52HisfsTer2
ENST00000591740.5:c.154del	ENSP00000467022.1:p.Thr52HisfsTer2
ENST00000592323.5:n.317del
ENST00000592783.5:c.154del	ENSP00000467870.1:p.Thr52HisfsTer2
ENST00000593167.5:c.154del	ENSP00000466405.1:p.Thr52HisfsTer2
NM_002087.3:c.154del	NP_002078.1:p.Thr52HisfsTer2
XM_005257253.1:c.154del	XP_005257310.1:p.Thr52HisfsTer2
XM_024450730.1:c.154del	XP_024306498.1:p.Thr52HisfsTer2
NM_002087.4:c.154del MANE Select	NP_002078.1:p.Thr52HisfsTer2