Canonical Allele Identifier: CA2620450939

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830858-TTCCGGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830859_101830865del , CM000674.2:g.101830859_101830865del	GRCh38
NC_000012.11:g.102224637_102224643del , CM000674.1:g.102224637_102224643del	GRCh37
NC_000012.10:g.100748768_100748774del	NCBI36
NG_021243.1:g.5003_5009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-190_-184del MANE Select	ENSP00000299314.7:n.-190_-184del
ENST00000299314.11:c.-190_-184del	ENSP00000299314.7:n.-190_-184del
NM_024312.4:c.-190_-184del	NP_077288.2:n.-190_-184del
NM_024312.5:c.-190_-184del MANE Select	NP_077288.2:n.-190_-184del