Canonical Allele Identifier: CA2620425903

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101753306-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753310_101753311del , CM000674.2:g.101753310_101753311del	GRCh38
NC_000012.11:g.102147088_102147089del , CM000674.1:g.102147088_102147089del	GRCh37
NC_000012.10:g.100671219_100671220del	NCBI36
NG_021243.1:g.82560_82561del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3602+64_3602+65del MANE Select	ENSP00000299314.7:n.3602+64_3602+65del
ENST00000299314.11:c.3602+64_3602+65del	ENSP00000299314.7:n.3602+64_3602+65del
ENST00000549738.5:c.500+64_500+65del	ENSP00000450161.1:n.500+64_500+65del
NM_024312.4:c.3602+64_3602+65del	NP_077288.2:n.3602+64_3602+65del
XM_011538731.1:c.3521+64_3521+65del	XP_011537033.1:n.3521+64_3521+65del
XM_011538731.2:c.3521+64_3521+65del	XP_011537033.1:n.3521+64_3521+65del
XM_017019961.1:c.3386+64_3386+65del	XP_016875450.1:n.3386+64_3386+65del
XM_017019962.2:c.2375+64_2375+65del	XP_016875451.1:n.2375+64_2375+65del
NM_024312.5:c.3602+64_3602+65del MANE Select	NP_077288.2:n.3602+64_3602+65del