Canonical Allele Identifier: CA1612347150

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627486_15627489delinsCAAG , CM000668.2:g.15627486_15627489delinsCAAG	GRCh38
NC_000006.11:g.15627717_15627720delinsCAAG , CM000668.1:g.15627717_15627720delinsCAAG	GRCh37
NC_000006.10:g.15735696_15735699delinsCAAG	NCBI36
NG_009309.1:g.40552_40555delinsCTTG , LRG_588:g.40552_40555delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.223-14_223-11delinsCTTG MANE Select	ENSP00000341680.6:n.223-14_223-11delinsCTTG
ENST00000338950.9:c.223-14_223-11delinsCTTG	ENSP00000344718.5:n.223-14_223-11delinsCTTG
ENST00000344537.9:c.223-14_223-11delinsCTTG	ENSP00000341680.5:n.223-14_223-11delinsCTTG
ENST00000355917.7:c.172-14_172-11delinsCTTG	ENSP00000348183.4:n.172-14_172-11delinsCTTG
ENST00000506844.1:c.*221-14_*221-11delinsCTTG	ENSP00000424202.1:n.*221-14_*221-11delinsCTTG
ENST00000510395.5:c.*133-14_*133-11delinsCTTG	ENSP00000424685.1:n.*133-14_*133-11delinsCTTG
ENST00000511762.2:c.118-14_118-11delinsCTTG	ENSP00000427473.2:n.118-14_118-11delinsCTTG
ENST00000513680.5:c.*221-14_*221-11delinsCTTG	ENSP00000424357.1:n.*221-14_*221-11delinsCTTG
ENST00000515875.5:c.172-14_172-11delinsCTTG	ENSP00000425495.1:n.172-14_172-11delinsCTTG
ENST00000622898.4:c.118-14_118-11delinsCTTG	ENSP00000481997.1:n.118-14_118-11delinsCTTG
NM_001271667.1:c.-21-14_-21-11delinsCTTG	NP_001258596.1:n.-21-14_-21-11delinsCTTG
NM_001271668.1:c.172-14_172-11delinsCTTG	NP_001258597.1:n.172-14_172-11delinsCTTG
NM_001271669.1:c.118-14_118-11delinsCTTG	NP_001258598.1:n.118-14_118-11delinsCTTG
NM_032122.4:c.223-14_223-11delinsCTTG , LRG_588t1:c.223-14_223-11delinsCTTG	NP_115498.2:n.223-14_223-11delinsCTTG
NM_183040.2:c.223-14_223-11delinsCTTG , LRG_588t2:c.223-14_223-11delinsCTTG	NP_898861.1:n.223-14_223-11delinsCTTG
NR_036448.1:n.551-14_551-11delinsCTTG
XM_005249447.3:c.184-14_184-11delinsCTTG	XP_005249504.1:n.184-14_184-11delinsCTTG
XM_011514936.1:c.133-14_133-11delinsCTTG	XP_011513238.1:n.133-14_133-11delinsCTTG
XM_005249447.4:c.184-14_184-11delinsCTTG	XP_005249504.1:n.184-14_184-11delinsCTTG
XM_011514936.3:c.133-14_133-11delinsCTTG	XP_011513238.1:n.133-14_133-11delinsCTTG
NM_032122.5:c.223-14_223-11delinsCTTG MANE Select	NP_115498.2:n.223-14_223-11delinsCTTG
NR_036448.2:n.521-14_521-11delinsCTTG
NM_001271667.2:c.-21-14_-21-11delinsCTTG	NP_001258596.1:n.-21-14_-21-11delinsCTTG
NM_001271668.2:c.172-14_172-11delinsCTTG	NP_001258597.1:n.172-14_172-11delinsCTTG
NM_001271669.2:c.118-14_118-11delinsCTTG	NP_001258598.1:n.118-14_118-11delinsCTTG
NR_036448.3:n.521-14_521-11delinsCTTG