Canonical Allele Identifier: CA2677408291
Gene: DTNBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627587_15627588insGGGTTG , CM000668.2:g.15627587_15627588insGGGTTG GRCh38
NC_000006.11:g.15627818_15627819insGGGTTG , CM000668.1:g.15627818_15627819insGGGTTG GRCh37
NC_000006.10:g.15735797_15735798insGGGTTG NCBI36
NG_009309.1:g.40454_40455insAACCCC , LRG_588:g.40454_40455insAACCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.223-112_223-111insAACCCC MANE Select ENSP00000341680.6:n.223-112_223-111insAACCCC
ENST00000338950.9:c.223-112_223-111insAACCCC ENSP00000344718.5:n.223-112_223-111insAACCCC
ENST00000344537.9:c.223-112_223-111insAACCCC ENSP00000341680.5:n.223-112_223-111insAACCCC
ENST00000355917.7:c.172-112_172-111insAACCCC ENSP00000348183.4:n.172-112_172-111insAACCCC
ENST00000506844.1:c.*221-112_*221-111insAACCCC ENSP00000424202.1:n.*221-112_*221-111insAACCCC
ENST00000510395.5:c.*133-112_*133-111insAACCCC ENSP00000424685.1:n.*133-112_*133-111insAACCCC
ENST00000511762.2:c.118-112_118-111insAACCCC ENSP00000427473.2:n.118-112_118-111insAACCCC
ENST00000513680.5:c.*221-112_*221-111insAACCCC ENSP00000424357.1:n.*221-112_*221-111insAACCCC
ENST00000515875.5:c.172-112_172-111insAACCCC ENSP00000425495.1:n.172-112_172-111insAACCCC
ENST00000622898.4:c.118-112_118-111insAACCCC ENSP00000481997.1:n.118-112_118-111insAACCCC
NM_001271667.1:c.-21-112_-21-111insAACCCC NP_001258596.1:n.-21-112_-21-111insAACCCC
NM_001271668.1:c.172-112_172-111insAACCCC NP_001258597.1:n.172-112_172-111insAACCCC
NM_001271669.1:c.118-112_118-111insAACCCC NP_001258598.1:n.118-112_118-111insAACCCC
NM_032122.4:c.223-112_223-111insAACCCC , LRG_588t1:c.223-112_223-111insAACCCC NP_115498.2:n.223-112_223-111insAACCCC
NM_183040.2:c.223-112_223-111insAACCCC , LRG_588t2:c.223-112_223-111insAACCCC NP_898861.1:n.223-112_223-111insAACCCC
NR_036448.1:n.551-112_551-111insAACCCC
XM_005249447.3:c.184-112_184-111insAACCCC XP_005249504.1:n.184-112_184-111insAACCCC
XM_011514936.1:c.133-112_133-111insAACCCC XP_011513238.1:n.133-112_133-111insAACCCC
XM_005249447.4:c.184-112_184-111insAACCCC XP_005249504.1:n.184-112_184-111insAACCCC
XM_011514936.3:c.133-112_133-111insAACCCC XP_011513238.1:n.133-112_133-111insAACCCC
NM_032122.5:c.223-112_223-111insAACCCC MANE Select NP_115498.2:n.223-112_223-111insAACCCC
NR_036448.2:n.521-112_521-111insAACCCC
NM_001271667.2:c.-21-112_-21-111insAACCCC NP_001258596.1:n.-21-112_-21-111insAACCCC
NM_001271668.2:c.172-112_172-111insAACCCC NP_001258597.1:n.172-112_172-111insAACCCC
NM_001271669.2:c.118-112_118-111insAACCCC NP_001258598.1:n.118-112_118-111insAACCCC
NR_036448.3:n.521-112_521-111insAACCCC