Canonical Allele Identifier: CA2727001845

Gene: GNPTAB

Linked Data

• dbSNP Id: rs2137198070

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830717_101830718del , CM000674.2:g.101830717_101830718del	GRCh38
NC_000012.11:g.102224495_102224496del , CM000674.1:g.102224495_102224496del	GRCh37
NC_000012.10:g.100748626_100748627del	NCBI36
NG_021243.1:g.5151_5152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-42_-41del MANE Select	ENSP00000299314.7:n.-42_-41del
ENST00000299314.11:c.-42_-41del	ENSP00000299314.7:n.-42_-41del
ENST00000392919.4:c.-42_-41del	ENSP00000376651.4:n.-42_-41del
ENST00000549940.5:c.-42_-41del	ENSP00000449150.1:n.-42_-41del
NM_024312.4:c.-42_-41del	NP_077288.2:n.-42_-41del
XM_006719593.2:c.-42_-41del	XP_006719656.1:n.-42_-41del
XM_006719593.3:c.-42_-41del	XP_006719656.1:n.-42_-41del
XM_017019961.1:c.-191_-190del	XP_016875450.1:n.-191_-190del
XM_017019962.2:c.-1392_-1391del	XP_016875451.1:n.-1392_-1391del
NM_024312.5:c.-42_-41del MANE Select	NP_077288.2:n.-42_-41del