Canonical Allele Identifier: CA2620450394

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830727-CCGCCGCCGCCTCAGCGAGCCGCCATTCAGGGGCCCCGGTCGGGCCGCCGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830731_101830781del , CM000674.2:g.101830731_101830781del	GRCh38
NC_000012.11:g.102224509_102224559del , CM000674.1:g.102224509_102224559del	GRCh37
NC_000012.10:g.100748640_100748690del	NCBI36
NG_021243.1:g.5090_5140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-103_-53del MANE Select	ENSP00000299314.7:n.-103_-53del
ENST00000299314.11:c.-103_-53del	ENSP00000299314.7:n.-103_-53del
ENST00000392919.4:c.-103_-53del	ENSP00000376651.4:n.-103_-53del
ENST00000549940.5:c.-103_-53del	ENSP00000449150.1:n.-103_-53del
NM_024312.4:c.-103_-53del	NP_077288.2:n.-103_-53del
XM_006719593.2:c.-103_-53del	XP_006719656.1:n.-103_-53del
XM_006719593.3:c.-103_-53del	XP_006719656.1:n.-103_-53del
XM_017019961.1:c.-252_-202del	XP_016875450.1:n.-252_-202del
XM_017019962.2:c.-1453_-1403del	XP_016875451.1:n.-1453_-1403del
NM_024312.5:c.-103_-53del MANE Select	NP_077288.2:n.-103_-53del