Canonical Allele Identifier: CA2575265314

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830677_101830678del , CM000674.2:g.101830677_101830678del	GRCh38
NC_000012.11:g.102224455_102224456del , CM000674.1:g.102224455_102224456del	GRCh37
NC_000012.10:g.100748586_100748587del	NCBI36
NG_021243.1:g.5191_5192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-2_-1del MANE Select	ENSP00000299314.7:n.-2_-1del
ENST00000299314.11:c.-2_-1del	ENSP00000299314.7:n.-2_-1del
ENST00000392919.4:c.-2_-1del	ENSP00000376651.4:n.-2_-1del
ENST00000549165.1:c.-2_-1del	ENSP00000450413.1:n.-2_-1del
ENST00000549940.5:c.-2_-1del	ENSP00000449150.1:n.-2_-1del
NM_024312.4:c.-2_-1del	NP_077288.2:n.-2_-1del
XM_006719593.2:c.-2_-1del	XP_006719656.1:n.-2_-1del
XM_006719593.3:c.-2_-1del	XP_006719656.1:n.-2_-1del
XM_017019961.1:c.-151_-150del	XP_016875450.1:n.-151_-150del
XM_017019962.2:c.-1352_-1351del	XP_016875451.1:n.-1352_-1351del
NM_024312.5:c.-2_-1del MANE Select	NP_077288.2:n.-2_-1del