Canonical Allele Identifier: CA2770094517
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627802_15627803insAAAAAAAAAAAAAAAAA , CM000668.2:g.15627802_15627803insAAAAAAAAAAAAAAAAA GRCh38
NC_000006.11:g.15628033_15628034insAAAAAAAAAAAAAAAAA , CM000668.1:g.15628033_15628034insAAAAAAAAAAAAAAAAA GRCh37
NC_000006.10:g.15736012_15736013insAAAAAAAAAAAAAAAAA NCBI36
NG_009309.1:g.40250_40251insTTTTTTTTTTTTTTTTT , LRG_588:g.40250_40251insTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.223-316_223-315insTTTTTTTTTTTTTTTTT MANE Select ENSP00000341680.6:n.223-316_223-315insTTTTTTTTTTTTTTTTT
ENST00000338950.9:c.223-316_223-315insTTTTTTTTTTTTTTTTT ENSP00000344718.5:n.223-316_223-315insTTTTTTTTTTTTTTTTT
ENST00000344537.9:c.223-316_223-315insTTTTTTTTTTTTTTTTT ENSP00000341680.5:n.223-316_223-315insTTTTTTTTTTTTTTTTT
ENST00000355917.7:c.172-316_172-315insTTTTTTTTTTTTTTTTT ENSP00000348183.4:n.172-316_172-315insTTTTTTTTTTTTTTTTT
ENST00000506844.1:c.*221-316_*221-315insTTTTTTTTTTTTTTTTT ENSP00000424202.1:n.*221-316_*221-315insTTTTTTTTTTTTTTTTT
ENST00000510395.5:c.*133-316_*133-315insTTTTTTTTTTTTTTTTT ENSP00000424685.1:n.*133-316_*133-315insTTTTTTTTTTTTTTTTT
ENST00000511762.2:c.118-316_118-315insTTTTTTTTTTTTTTTTT ENSP00000427473.2:n.118-316_118-315insTTTTTTTTTTTTTTTTT
ENST00000513680.5:c.*221-316_*221-315insTTTTTTTTTTTTTTTTT ENSP00000424357.1:n.*221-316_*221-315insTTTTTTTTTTTTTTTTT
ENST00000515875.5:c.172-316_172-315insTTTTTTTTTTTTTTTTT ENSP00000425495.1:n.172-316_172-315insTTTTTTTTTTTTTTTTT
ENST00000622898.4:c.118-316_118-315insTTTTTTTTTTTTTTTTT ENSP00000481997.1:n.118-316_118-315insTTTTTTTTTTTTTTTTT
NM_001271667.1:c.-21-316_-21-315insTTTTTTTTTTTTTTTTT NP_001258596.1:n.-21-316_-21-315insTTTTTTTTTTTTTTTTT
NM_001271668.1:c.172-316_172-315insTTTTTTTTTTTTTTTTT NP_001258597.1:n.172-316_172-315insTTTTTTTTTTTTTTTTT
NM_001271669.1:c.118-316_118-315insTTTTTTTTTTTTTTTTT NP_001258598.1:n.118-316_118-315insTTTTTTTTTTTTTTTTT
NM_032122.4:c.223-316_223-315insTTTTTTTTTTTTTTTTT , LRG_588t1:c.223-316_223-315insTTTTTTTTTTTTTTTTT NP_115498.2:n.223-316_223-315insTTTTTTTTTTTTTTTTT
NM_183040.2:c.223-316_223-315insTTTTTTTTTTTTTTTTT , LRG_588t2:c.223-316_223-315insTTTTTTTTTTTTTTTTT NP_898861.1:n.223-316_223-315insTTTTTTTTTTTTTTTTT
NR_036448.1:n.551-316_551-315insTTTTTTTTTTTTTTTTT
XM_005249447.3:c.184-316_184-315insTTTTTTTTTTTTTTTTT XP_005249504.1:n.184-316_184-315insTTTTTTTTTTTTTTTTT
XM_011514936.1:c.133-316_133-315insTTTTTTTTTTTTTTTTT XP_011513238.1:n.133-316_133-315insTTTTTTTTTTTTTTTTT
XM_005249447.4:c.184-316_184-315insTTTTTTTTTTTTTTTTT XP_005249504.1:n.184-316_184-315insTTTTTTTTTTTTTTTTT
XM_011514936.3:c.133-316_133-315insTTTTTTTTTTTTTTTTT XP_011513238.1:n.133-316_133-315insTTTTTTTTTTTTTTTTT
NM_032122.5:c.223-316_223-315insTTTTTTTTTTTTTTTTT MANE Select NP_115498.2:n.223-316_223-315insTTTTTTTTTTTTTTTTT
NR_036448.2:n.521-316_521-315insTTTTTTTTTTTTTTTTT
NM_001271667.2:c.-21-316_-21-315insTTTTTTTTTTTTTTTTT NP_001258596.1:n.-21-316_-21-315insTTTTTTTTTTTTTTTTT
NM_001271668.2:c.172-316_172-315insTTTTTTTTTTTTTTTTT NP_001258597.1:n.172-316_172-315insTTTTTTTTTTTTTTTTT
NM_001271669.2:c.118-316_118-315insTTTTTTTTTTTTTTTTT NP_001258598.1:n.118-316_118-315insTTTTTTTTTTTTTTTTT
NR_036448.3:n.521-316_521-315insTTTTTTTTTTTTTTTTT