Canonical Allele Identifier: CA2638209167

Gene: GRN

Linked Data

• gnomAD v4: 17-44351088-G-GACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351090_44351145dup , CM000679.2:g.44351090_44351145dup	GRCh38
NC_000017.10:g.42428458_42428513dup , CM000679.1:g.42428458_42428513dup	GRCh37
NC_000017.9:g.39783984_39784039dup	NCBI36
NG_007886.1:g.10968_11023dup , LRG_661:g.10968_11023dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000053867.8:c.762_817dup MANE Select	ENSP00000053867.2:p.Lys273ThrfsTer2
ENST00000639447.1:c.762_817dup	ENSP00000492014.1:p.Lys273ThrfsTer2
ENST00000053867.7:c.762_817dup	ENSP00000053867.2:p.Lys273ThrfsTer2
ENST00000585348.1:n.180_235dup
ENST00000586443.1:c.203_258dup
ENST00000586782.5:c.*172_*227dup	ENSP00000468318.1:n.*172_*227dup
ENST00000589265.5:c.463-460_463-405dup	ENSP00000467616.1:n.463-460_463-405dup
ENST00000589923.1:n.83_93+45dup
ENST00000590984.1:n.352_407dup
NM_002087.3:c.762_817dup	NP_002078.1:p.Lys273ThrfsTer2
XM_005257253.1:c.762_817dup	XP_005257310.1:p.Lys273ThrfsTer2
XM_024450730.1:c.762_817dup	XP_024306498.1:p.Lys273ThrfsTer2
NM_002087.4:c.762_817dup MANE Select	NP_002078.1:p.Lys273ThrfsTer2