Canonical Allele Identifier: CA2638209691

Gene: GRN

Linked Data

• gnomAD v4: 17-44351654-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351656dup , CM000679.2:g.44351656dup	GRCh38
NC_000017.10:g.42429024dup , CM000679.1:g.42429024dup	GRCh37
NC_000017.9:g.39784550dup	NCBI36
NG_007886.1:g.11534dup , LRG_661:g.11534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1040dup MANE Select	ENSP00000053867.2:p.Ala348GlyfsTer20
ENST00000639447.1:c.1040dup	ENSP00000492014.1:p.Ala348GlyfsTer20
ENST00000053867.7:c.1040dup	ENSP00000053867.2:p.Ala348GlyfsTer20
ENST00000586443.1:c.481dup
ENST00000589265.5:c.569dup	ENSP00000467616.1:p.Ala191GlyfsTer20
ENST00000589923.1:n.298dup
NM_002087.3:c.1040dup	NP_002078.1:p.Ala348GlyfsTer20
XM_005257253.1:c.1040dup	XP_005257310.1:p.Ala348GlyfsTer20
XM_024450730.1:c.1040dup	XP_024306498.1:p.Ala348GlyfsTer20
NM_002087.4:c.1040dup MANE Select	NP_002078.1:p.Ala348GlyfsTer20