Canonical Allele Identifier: CA2038688147
Gene: NAB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57094392_57094394delinsGAC , CM000674.2:g.57094392_57094394delinsGAC GRCh38
NC_000012.11:g.57488175_57488177delinsGAC , CM000674.1:g.57488175_57488177delinsGAC GRCh37
NC_000012.10:g.55774442_55774444delinsGAC NCBI36
NG_021272.1:g.22020_22022delinsGTC
NG_021272.2:g.42746_42748delinsGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000300131.8:c.1469-220_1469-218delinsGAC MANE Select ENSP00000300131.3:n.1469-220_1469-218delinsGAC
ENST00000300131.7:c.1469-220_1469-218delinsGAC ENSP00000300131.3:n.1469-220_1469-218delinsGAC
ENST00000342556.6:c.1277-220_1277-218delinsGAC ENSP00000341491.6:n.1277-220_1277-218delinsGAC
NM_005967.3:c.1469-220_1469-218delinsGAC NP_005958.1:n.1469-220_1469-218delinsGAC
XM_005268894.2:c.1277-220_1277-218delinsGAC XP_005268951.1:n.1277-220_1277-218delinsGAC
NM_001330305.1:c.1277-220_1277-218delinsGAC NP_001317234.1:n.1277-220_1277-218delinsGAC
NM_005967.4:c.1469-220_1469-218delinsGAC MANE Select NP_005958.1:n.1469-220_1469-218delinsGAC
NM_001330305.2:c.1277-220_1277-218delinsGAC NP_001317234.1:n.1277-220_1277-218delinsGAC