Canonical Allele Identifier: CA2620425919

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101753316-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753319_101753320del , CM000674.2:g.101753319_101753320del	GRCh38
NC_000012.11:g.102147097_102147098del , CM000674.1:g.102147097_102147098del	GRCh37
NC_000012.10:g.100671228_100671229del	NCBI36
NG_021243.1:g.82550_82551del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3602+54_3602+55del MANE Select	ENSP00000299314.7:n.3602+54_3602+55del
ENST00000299314.11:c.3602+54_3602+55del	ENSP00000299314.7:n.3602+54_3602+55del
ENST00000549738.5:c.500+54_500+55del	ENSP00000450161.1:n.500+54_500+55del
NM_024312.4:c.3602+54_3602+55del	NP_077288.2:n.3602+54_3602+55del
XM_011538731.1:c.3521+54_3521+55del	XP_011537033.1:n.3521+54_3521+55del
XM_011538731.2:c.3521+54_3521+55del	XP_011537033.1:n.3521+54_3521+55del
XM_017019961.1:c.3386+54_3386+55del	XP_016875450.1:n.3386+54_3386+55del
XM_017019962.2:c.2375+54_2375+55del	XP_016875451.1:n.2375+54_2375+55del
NM_024312.5:c.3602+54_3602+55del MANE Select	NP_077288.2:n.3602+54_3602+55del