Canonical Allele Identifier: CA2770094516
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627802_15627803insAAAAAAAAAAAAAAAAAA , CM000668.2:g.15627802_15627803insAAAAAAAAAAAAAAAAAA GRCh38
NC_000006.11:g.15628033_15628034insAAAAAAAAAAAAAAAAAA , CM000668.1:g.15628033_15628034insAAAAAAAAAAAAAAAAAA GRCh37
NC_000006.10:g.15736012_15736013insAAAAAAAAAAAAAAAAAA NCBI36
NG_009309.1:g.40250_40251insTTTTTTTTTTTTTTTTTT , LRG_588:g.40250_40251insTTTTTTTTTTTTTTTTTT

Transcript Alleles

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