Canonical Allele Identifier: CA2580093889

Gene: GRN

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44350509_44350522del , CM000679.2:g.44350509_44350522del	GRCh38
NC_000017.10:g.42427877_42427890del , CM000679.1:g.42427877_42427890del	GRCh37
NC_000017.9:g.39783403_39783416del	NCBI36
NG_007886.1:g.10387_10400del , LRG_661:g.10387_10400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.530_543del MANE Select	ENSP00000053867.2:p.Arg177HisfsTer16
ENST00000639447.1:c.530_543del	ENSP00000492014.1:p.Arg177HisfsTer16
ENST00000053867.7:c.530_543del	ENSP00000053867.2:p.Arg177HisfsTer16
ENST00000586782.5:c.510_523del	ENSP00000468318.1:p.Leu171ArgfsTer?
ENST00000588237.5:c.332_345del	ENSP00000466611.1:p.Arg111HisfsTer16
ENST00000589265.5:c.462+169_462+182del	ENSP00000467616.1:n.462+169_462+182del
ENST00000590984.1:n.120_133del
NM_002087.3:c.530_543del	NP_002078.1:p.Arg177HisfsTer16
XM_005257253.1:c.530_543del	XP_005257310.1:p.Arg177HisfsTer16
XM_024450730.1:c.530_543del	XP_024306498.1:p.Arg177HisfsTer16
NM_002087.4:c.530_543del MANE Select	NP_002078.1:p.Arg177HisfsTer16