Canonical Allele Identifier: CA607383705
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs76300806

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830729_101830737dup , CM000674.2:g.101830729_101830737dup GRCh38
NC_000012.11:g.102224507_102224515dup , CM000674.1:g.102224507_102224515dup GRCh37
NC_000012.10:g.100748638_100748646dup NCBI36
NG_021243.1:g.5146_5154dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-47_-39dup MANE Select ENSP00000299314.7:n.-47_-39dup
ENST00000299314.11:c.-47_-39dup ENSP00000299314.7:n.-47_-39dup
ENST00000392919.4:c.-47_-39dup ENSP00000376651.4:n.-47_-39dup
ENST00000549940.5:c.-47_-39dup ENSP00000449150.1:n.-47_-39dup
NM_024312.4:c.-47_-39dup NP_077288.2:n.-47_-39dup
XM_006719593.2:c.-47_-39dup XP_006719656.1:n.-47_-39dup
XM_006719593.3:c.-47_-39dup XP_006719656.1:n.-47_-39dup
XM_017019961.1:c.-196_-188dup XP_016875450.1:n.-196_-188dup
XM_017019962.2:c.-1397_-1389dup XP_016875451.1:n.-1397_-1389dup
NM_024312.5:c.-47_-39dup MANE Select NP_077288.2:n.-47_-39dup