Canonical Allele Identifier: CA2620450430

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830735-G-GCCGCCGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830737_101830738insGCCGCCCCC , CM000674.2:g.101830737_101830738insGCCGCCCCC	GRCh38
NC_000012.11:g.102224515_102224516insGCCGCCCCC , CM000674.1:g.102224515_102224516insGCCGCCCCC	GRCh37
NC_000012.10:g.100748646_100748647insGCCGCCCCC	NCBI36
NG_021243.1:g.5132_5133insGGGCGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-61_-60insGGGCGGCGG MANE Select	ENSP00000299314.7:n.-61_-60insGGGCGGCGG
ENST00000299314.11:c.-61_-60insGGGCGGCGG	ENSP00000299314.7:n.-61_-60insGGGCGGCGG
ENST00000392919.4:c.-61_-60insGGGCGGCGG	ENSP00000376651.4:n.-61_-60insGGGCGGCGG
ENST00000549940.5:c.-61_-60insGGGCGGCGG	ENSP00000449150.1:n.-61_-60insGGGCGGCGG
NM_024312.4:c.-61_-60insGGGCGGCGG	NP_077288.2:n.-61_-60insGGGCGGCGG
XM_006719593.2:c.-61_-60insGGGCGGCGG	XP_006719656.1:n.-61_-60insGGGCGGCGG
XM_006719593.3:c.-61_-60insGGGCGGCGG	XP_006719656.1:n.-61_-60insGGGCGGCGG
XM_017019961.1:c.-210_-209insGGGCGGCGG	XP_016875450.1:n.-210_-209insGGGCGGCGG
XM_017019962.2:c.-1411_-1410insGGGCGGCGG	XP_016875451.1:n.-1411_-1410insGGGCGGCGG
NM_024312.5:c.-61_-60insGGGCGGCGG MANE Select	NP_077288.2:n.-61_-60insGGGCGGCGG