Canonical Allele Identifier: CA2299303
Community Standard Title: NM_000404.4(GLB1):c.1735-5_1735-4dup
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32997358_32997359dup , CM000665.2:g.32997358_32997359dup GRCh38
NC_000003.11:g.33038850_33038851dup , CM000665.1:g.33038850_33038851dup GRCh37
NC_000003.10:g.33013854_33013855dup NCBI36
NG_009005.1:g.104854_104855dup

Transcript Alleles

HGVS Amino-acid Change
NM_000404.4:c.1735-5_1735-4dup MANE Select NP_000395.3:n.1735-5_1735-4dup
ENST00000307363.10:c.1735-5_1735-4dup MANE Select ENSP00000306920.4:n.1735-5_1735-4dup
NM_000404.2:c.1735-5_1735-4dup NP_000395.2:n.1735-5_1735-4dup
NM_000404.3:c.1735-5_1735-4dup NP_000395.2:n.1735-5_1735-4dup
NM_001079811.1:c.1645-5_1645-4dup NP_001073279.1:n.1645-5_1645-4dup
NM_001079811.2:c.1645-5_1645-4dup NP_001073279.1:n.1645-5_1645-4dup
NM_001079811.3:c.1645-5_1645-4dup NP_001073279.2:n.1645-5_1645-4dup
NM_001135602.1:c.1342-5_1342-4dup NP_001129074.1:n.1342-5_1342-4dup
NM_001135602.2:c.1342-5_1342-4dup NP_001129074.1:n.1342-5_1342-4dup
NM_001135602.3:c.1342-5_1342-4dup NP_001129074.2:n.1342-5_1342-4dup
NM_001317040.1:c.1879-5_1879-4dup NP_001303969.1:n.1879-5_1879-4dup
NM_001317040.2:c.1879-5_1879-4dup NP_001303969.2:n.1879-5_1879-4dup
NM_001393580.1:c.1734+16707_1734+16708dup NP_001380509.1:n.1734+16707_1734+16708dup
ENST00000307363.9:c.1735-5_1735-4dup ENSP00000306920.4:n.1735-5_1735-4dup
ENST00000307377.12:c.1342-5_1342-4dup ENSP00000305920.8:n.1342-5_1342-4dup
ENST00000399402.7:c.1645-5_1645-4dup ENSP00000382333.2:n.1645-5_1645-4dup