Canonical Allele Identifier: CA1612387919
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15650850_15650851delinsCA , CM000668.2:g.15650850_15650851delinsCA GRCh38
NC_000006.11:g.15651081_15651082delinsCA , CM000668.1:g.15651081_15651082delinsCA GRCh37
NC_000006.10:g.15759060_15759061delinsCA NCBI36
NG_009309.1:g.17190_17191delinsTG , LRG_588:g.17190_17191delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000344537.10:c.161+462_161+463delinsTG MANE Select ENSP00000341680.6:n.161+462_161+463delins...
ENST00000338950.9:c.161+462_161+463delinsTG ENSP00000344718.5:n.161+462_161+463delins...
ENST00000344537.9:c.161+462_161+463delinsTG ENSP00000341680.5:n.161+462_161+463delins...
ENST00000355917.7:c.110+1236_110+1237delinsTG ENSP00000348183.4:n.110+1236_110+1237deli...
ENST00000506844.1:c.*159+462_*159+463delinsTG ENSP00000424202.1:n.*159+462_*159+463deli...
ENST00000510395.5:c.*71+462_*71+463delinsTG ENSP00000424685.1:n.*71+462_*71+463delins...
ENST00000511762.2:c.56+11963_56+11964delinsTG ENSP00000427473.2:n.56+11963_56+11964deli...
ENST00000513680.5:c.*159+462_*159+463delinsTG ENSP00000424357.1:n.*159+462_*159+463deli...
ENST00000515875.5:c.110+1236_110+1237delinsTG ENSP00000425495.1:n.110+1236_110+1237deli...
ENST00000622898.4:c.56+11963_56+11964delinsTG ENSP00000481997.1:n.56+11963_56+11964deli...
NM_001271667.1:c.-83+462_-83+463delinsTG NP_001258596.1:n.-83+462_-83+463delinsTG
NM_001271668.1:c.110+1236_110+1237delinsTG NP_001258597.1:n.110+1236_110+1237delinsT...
NM_001271669.1:c.56+11963_56+11964delinsTG NP_001258598.1:n.56+11963_56+11964delinsT...
NM_032122.4:c.161+462_161+463delinsTG , LRG_588t1:c.161+462_161+463delinsTG NP_115498.2:n.161+462_161+463delinsTG
NM_183040.2:c.161+462_161+463delinsTG , LRG_588t2:c.161+462_161+463delinsTG NP_898861.1:n.161+462_161+463delinsTG
NR_036448.1:n.489+462_489+463delinsTG
XM_005249447.3:c.122+462_122+463delinsTG XP_005249504.1:n.122+462_122+463delinsTG
XM_011514936.1:c.71+1236_71+1237delinsTG XP_011513238.1:n.71+1236_71+1237delinsTG
XM_005249447.4:c.122+462_122+463delinsTG XP_005249504.1:n.122+462_122+463delinsTG
XM_011514936.3:c.71+1236_71+1237delinsTG XP_011513238.1:n.71+1236_71+1237delinsTG
NM_032122.5:c.161+462_161+463delinsTG MANE Select NP_115498.2:n.161+462_161+463delinsTG
NR_036448.2:n.459+462_459+463delinsTG
NM_001271667.2:c.-83+462_-83+463delinsTG NP_001258596.1:n.-83+462_-83+463delinsTG
NM_001271668.2:c.110+1236_110+1237delinsTG NP_001258597.1:n.110+1236_110+1237delinsT...
NM_001271669.2:c.56+11963_56+11964delinsTG NP_001258598.1:n.56+11963_56+11964delinsT...
NR_036448.3:n.459+462_459+463delinsTG