Canonical Allele Identifier: CA126151
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 16020
ClinVar RCV Id: RCV000017393 RCV000017394 RCV000029169 RCV000084585
dbSNP Id: rs63749877
MyVariant Identifiers: chr17:g.42428509_42428512del (hg19) chr17:g.44351141_44351144del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351141_44351144del , CM000679.2:g.44351141_44351144del GRCh38
NC_000017.10:g.42428509_42428512del , CM000679.1:g.42428509_42428512del GRCh37
NC_000017.9:g.39784035_39784038del NCBI36
NG_007886.1:g.11019_11022del , LRG_661:g.11019_11022del

Transcript Alleles

HGVS Amino-acid change
ENST00000053867.8:c.813_816del MANE Select ENSP00000053867.2:p.Thr272SerfsTer10
ENST00000639447.1:c.813_816del ENSP00000492014.1:p.Thr272SerfsTer10
ENST00000053867.7:c.813_816del ENSP00000053867.2:p.Thr272SerfsTer10
ENST00000585348.1:n.231_234del
ENST00000586443.1:c.254_257del
ENST00000586782.5:c.*223_*226del ENSP00000468318.1:n.*223_*226del
ENST00000589265.5:c.463-409_463-406del ENSP00000467616.1:n.463-409_463-406del
ENST00000589923.1:n.93+41_93+44del
ENST00000590984.1:n.403_406del
NM_002087.3:c.813_816del NP_002078.1:p.Thr272SerfsTer10
XM_005257253.1:c.813_816del XP_005257310.1:p.Thr272SerfsTer10
XM_024450730.1:c.813_816del XP_024306498.1:p.Thr272SerfsTer10
NM_002087.4:c.813_816del MANE Select NP_002078.1:p.Thr272SerfsTer10
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