Canonical Allele Identifier: CA2770094500
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627483_15627484insAACACACCCAA , CM000668.2:g.15627483_15627484insAACACACCCAA GRCh38
NC_000006.11:g.15627714_15627715insAACACACCCAA , CM000668.1:g.15627714_15627715insAACACACCCAA GRCh37
NC_000006.10:g.15735693_15735694insAACACACCCAA NCBI36
NG_009309.1:g.40558_40559insTGGGTGTGTTT , LRG_588:g.40558_40559insTGGGTGTGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.223-8_223-7insTGGGTGTGTTT MANE Select ENSP00000341680.6:n.223-8_223-7insTGGGTGTGTTT
ENST00000338950.9:c.223-8_223-7insTGGGTGTGTTT ENSP00000344718.5:n.223-8_223-7insTGGGTGTGTTT
ENST00000344537.9:c.223-8_223-7insTGGGTGTGTTT ENSP00000341680.5:n.223-8_223-7insTGGGTGTGTTT
ENST00000355917.7:c.172-8_172-7insTGGGTGTGTTT ENSP00000348183.4:n.172-8_172-7insTGGGTGTGTTT
ENST00000506844.1:c.*221-8_*221-7insTGGGTGTGTTT ENSP00000424202.1:n.*221-8_*221-7insTGGGTGTGTTT
ENST00000510395.5:c.*133-8_*133-7insTGGGTGTGTTT ENSP00000424685.1:n.*133-8_*133-7insTGGGTGTGTTT
ENST00000511762.2:c.118-8_118-7insTGGGTGTGTTT ENSP00000427473.2:n.118-8_118-7insTGGGTGTGTTT
ENST00000513680.5:c.*221-8_*221-7insTGGGTGTGTTT ENSP00000424357.1:n.*221-8_*221-7insTGGGTGTGTTT
ENST00000515875.5:c.172-8_172-7insTGGGTGTGTTT ENSP00000425495.1:n.172-8_172-7insTGGGTGTGTTT
ENST00000622898.4:c.118-8_118-7insTGGGTGTGTTT ENSP00000481997.1:n.118-8_118-7insTGGGTGTGTTT
NM_001271667.1:c.-21-8_-21-7insTGGGTGTGTTT NP_001258596.1:n.-21-8_-21-7insTGGGTGTGTTT
NM_001271668.1:c.172-8_172-7insTGGGTGTGTTT NP_001258597.1:n.172-8_172-7insTGGGTGTGTTT
NM_001271669.1:c.118-8_118-7insTGGGTGTGTTT NP_001258598.1:n.118-8_118-7insTGGGTGTGTTT
NM_032122.4:c.223-8_223-7insTGGGTGTGTTT , LRG_588t1:c.223-8_223-7insTGGGTGTGTTT NP_115498.2:n.223-8_223-7insTGGGTGTGTTT
NM_183040.2:c.223-8_223-7insTGGGTGTGTTT , LRG_588t2:c.223-8_223-7insTGGGTGTGTTT NP_898861.1:n.223-8_223-7insTGGGTGTGTTT
NR_036448.1:n.551-8_551-7insTGGGTGTGTTT
XM_005249447.3:c.184-8_184-7insTGGGTGTGTTT XP_005249504.1:n.184-8_184-7insTGGGTGTGTTT
XM_011514936.1:c.133-8_133-7insTGGGTGTGTTT XP_011513238.1:n.133-8_133-7insTGGGTGTGTTT
XM_005249447.4:c.184-8_184-7insTGGGTGTGTTT XP_005249504.1:n.184-8_184-7insTGGGTGTGTTT
XM_011514936.3:c.133-8_133-7insTGGGTGTGTTT XP_011513238.1:n.133-8_133-7insTGGGTGTGTTT
NM_032122.5:c.223-8_223-7insTGGGTGTGTTT MANE Select NP_115498.2:n.223-8_223-7insTGGGTGTGTTT
NR_036448.2:n.521-8_521-7insTGGGTGTGTTT
NM_001271667.2:c.-21-8_-21-7insTGGGTGTGTTT NP_001258596.1:n.-21-8_-21-7insTGGGTGTGTTT
NM_001271668.2:c.172-8_172-7insTGGGTGTGTTT NP_001258597.1:n.172-8_172-7insTGGGTGTGTTT
NM_001271669.2:c.118-8_118-7insTGGGTGTGTTT NP_001258598.1:n.118-8_118-7insTGGGTGTGTTT
NR_036448.3:n.521-8_521-7insTGGGTGTGTTT