Canonical Allele Identifier: CA225244

Gene: GRN

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44350262_44350265del , CM000679.2:g.44350262_44350265del	GRCh38
NC_000017.10:g.42427630_42427633del , CM000679.1:g.42427630_42427633del	GRCh37
NC_000017.9:g.39783156_39783159del	NCBI36
NG_007886.1:g.10140_10143del , LRG_661:g.10140_10143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.384_387del MANE Select	ENSP00000053867.2:p.Gln130SerfsTer?
ENST00000639447.1:c.384_387del	ENSP00000492014.1:p.Gln130SerfsTer?
ENST00000053867.7:c.384_387del	ENSP00000053867.2:p.Gln130SerfsTer?
ENST00000586782.5:c.384_387del	ENSP00000468318.1:p.Gln130SerfsTer?
ENST00000587387.5:c.426_429del	ENSP00000467431.1:p.Gln144SerfsTer?
ENST00000587518.5:c.384_387del	ENSP00000465518.1:p.Gln130SerfsTer?
ENST00000588143.5:c.384_387del	ENSP00000465375.1:p.Gln130SerfsTer?
ENST00000588237.5:c.265-180_265-177del	ENSP00000466611.1:n.265-180_265-177del
ENST00000589265.5:c.384_387del	ENSP00000467616.1:p.Gln130SerfsTer?
ENST00000591740.5:c.384_387del	ENSP00000467022.1:p.Gln130SerfsTer?
ENST00000592783.5:c.384_387del	ENSP00000467870.1:p.Gln130SerfsTer?
ENST00000593167.5:c.384_387del	ENSP00000466405.1:p.Gln130SerfsTer?
NM_002087.3:c.384_387del	NP_002078.1:p.Gln130SerfsTer?
XM_005257253.1:c.384_387del	XP_005257310.1:p.Gln130SerfsTer?
XM_024450730.1:c.384_387del	XP_024306498.1:p.Gln130SerfsTer?
NM_002087.4:c.384_387del MANE Select	NP_002078.1:p.Gln130SerfsTer?