Canonical Allele Identifier: CA1612384605
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627396_15627405delinsAGCTGCTCTT , CM000668.2:g.15627396_15627405delinsAGCTGCTCTT GRCh38
NC_000006.11:g.15627627_15627636delinsAGCTGCTCTT , CM000668.1:g.15627627_15627636delinsAGCTGCTCTT GRCh37
NC_000006.10:g.15735606_15735615delinsAGCTGCTCTT NCBI36
NG_009309.1:g.40636_40645delinsAAGAGCAGCT , LRG_588:g.40636_40645delinsAAGAGCAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.293_302delinsAAGAGCAGCT MANE Select ENSP00000341680.6:p.Gln98=
ENST00000338950.9:c.293_302delinsAAGAGCAGCT ENSP00000344718.5:p.Gln98=
ENST00000344537.9:c.293_302delinsAAGAGCAGCT ENSP00000341680.5:p.Gln98=
ENST00000355917.7:c.242_251delinsAAGAGCAGCT ENSP00000348183.4:p.Gln81=
ENST00000506844.1:c.*291_*300delinsAAGAGCAGCT ENSP00000424202.1:n.*291_*300delinsAAGAGCAGCT
ENST00000510395.5:c.*203_*212delinsAAGAGCAGCT ENSP00000424685.1:n.*203_*212delinsAAGAGCAGCT
ENST00000511762.2:c.188_197delinsAAGAGCAGCT ENSP00000427473.2:p.Gln63=
ENST00000513680.5:c.*291_*300delinsAAGAGCAGCT ENSP00000424357.1:n.*291_*300delinsAAGAGCAGCT
ENST00000515875.5:c.242_251delinsAAGAGCAGCT ENSP00000425495.1:p.Gln81=
ENST00000622898.4:c.188_197delinsAAGAGCAGCT ENSP00000481997.1:p.Gln63=
NM_001271667.1:c.50_59delinsAAGAGCAGCT NP_001258596.1:p.Gln17=
NM_001271668.1:c.242_251delinsAAGAGCAGCT NP_001258597.1:p.Gln81=
NM_001271669.1:c.188_197delinsAAGAGCAGCT NP_001258598.1:p.Gln63=
NM_032122.4:c.293_302delinsAAGAGCAGCT , LRG_588t1:c.293_302delinsAAGAGCAGCT NP_115498.2:p.Gln98=
NM_183040.2:c.293_302delinsAAGAGCAGCT , LRG_588t2:c.293_302delinsAAGAGCAGCT NP_898861.1:p.Gln98=
NR_036448.1:n.621_630delinsAAGAGCAGCT
XM_005249447.3:c.254_263delinsAAGAGCAGCT XP_005249504.1:p.Gln85=
XM_011514936.1:c.203_212delinsAAGAGCAGCT XP_011513238.1:p.Gln68=
XM_005249447.4:c.254_263delinsAAGAGCAGCT XP_005249504.1:p.Gln85=
XM_011514936.3:c.203_212delinsAAGAGCAGCT XP_011513238.1:p.Gln68=
NM_032122.5:c.293_302delinsAAGAGCAGCT MANE Select NP_115498.2:p.Gln98=
NR_036448.2:n.591_600delinsAAGAGCAGCT
NM_001271667.2:c.50_59delinsAAGAGCAGCT NP_001258596.1:p.Gln17=
NM_001271668.2:c.242_251delinsAAGAGCAGCT NP_001258597.1:p.Gln81=
NM_001271669.2:c.188_197delinsAAGAGCAGCT NP_001258598.1:p.Gln63=
NR_036448.3:n.591_600delinsAAGAGCAGCT