Canonical Allele Identifier: CA2038688395
Gene: NAB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57094507_57094509delinsCTG , CM000674.2:g.57094507_57094509delinsCTG GRCh38
NC_000012.11:g.57488290_57488292delinsCTG , CM000674.1:g.57488290_57488292delinsCTG GRCh37
NC_000012.10:g.55774557_55774559delinsCTG NCBI36
NG_021272.1:g.21905_21907delinsCAG
NG_021272.2:g.42631_42633delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000300131.8:c.1469-105_1469-103delinsCTG MANE Select ENSP00000300131.3:n.1469-105_1469-103delinsCTG
ENST00000300131.7:c.1469-105_1469-103delinsCTG ENSP00000300131.3:n.1469-105_1469-103delinsCTG
ENST00000342556.6:c.1277-105_1277-103delinsCTG ENSP00000341491.6:n.1277-105_1277-103delinsCTG
NM_005967.3:c.1469-105_1469-103delinsCTG NP_005958.1:n.1469-105_1469-103delinsCTG
XM_005268894.2:c.1277-105_1277-103delinsCTG XP_005268951.1:n.1277-105_1277-103delinsCTG
NM_001330305.1:c.1277-105_1277-103delinsCTG NP_001317234.1:n.1277-105_1277-103delinsCTG
NM_005967.4:c.1469-105_1469-103delinsCTG MANE Select NP_005958.1:n.1469-105_1469-103delinsCTG
NM_001330305.2:c.1277-105_1277-103delinsCTG NP_001317234.1:n.1277-105_1277-103delinsCTG