Canonical Allele Identifier: CA2620428764

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761767-A-AAATACTTTTTTTTCTCCCATGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761769_101761770insTACTTTTTTTTCTCCCATGGCAA , CM000674.2:g.101761769_101761770insTACTTTTTTTTCTCCCATGGCAA	GRCh38
NC_000012.11:g.102155547_102155548insTACTTTTTTTTCTCCCATGGCAA , CM000674.1:g.102155547_102155548insTACTTTTTTTTCTCCCATGGCAA	GRCh37
NC_000012.10:g.100679678_100679679insTACTTTTTTTTCTCCCATGGCAA	NCBI36
NG_021243.1:g.74100_74101insGCCATGGGAGAAAAAAAAGTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT MANE Select	ENSP00000299314.7:n.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT
ENST00000299314.11:c.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT	ENSP00000299314.7:n.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT
NM_024312.4:c.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT	NP_077288.2:n.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT
XM_006719593.2:c.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT	XP_006719656.1:n.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT
XM_011538731.1:c.2635-5_2635-4insGCCATGGGAGAAAAAAAAGTATT	XP_011537033.1:n.2635-5_2635-4insGCCATGGGAGAAAAAAAAGTATT
XM_006719593.3:c.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT	XP_006719656.1:n.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT
XM_011538731.2:c.2635-5_2635-4insGCCATGGGAGAAAAAAAAGTATT	XP_011537033.1:n.2635-5_2635-4insGCCATGGGAGAAAAAAAAGTATT
XM_017019961.1:c.2500-5_2500-4insGCCATGGGAGAAAAAAAAGTATT	XP_016875450.1:n.2500-5_2500-4insGCCATGGGAGAAAAAAAAGTATT
XM_017019962.2:c.1489-5_1489-4insGCCATGGGAGAAAAAAAAGTATT	XP_016875451.1:n.1489-5_1489-4insGCCATGGGAGAAAAAAAAGTATT
NM_024312.5:c.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT MANE Select	NP_077288.2:n.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT