Canonical Allele Identifier: CA1612354233

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15633298_15633299delinsGA , CM000668.2:g.15633298_15633299delinsGA	GRCh38
NC_000006.11:g.15633529_15633530delinsGA , CM000668.1:g.15633529_15633530delinsGA	GRCh37
NC_000006.10:g.15741508_15741509delinsGA	NCBI36
NG_009309.1:g.34742_34743delinsTC , LRG_588:g.34742_34743delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.222+4445_222+4446delinsTC MANE Select	ENSP00000341680.6:n.222+4445_222+4446delinsTC
ENST00000338950.9:c.222+4445_222+4446delinsTC	ENSP00000344718.5:n.222+4445_222+4446delinsTC
ENST00000344537.9:c.222+4445_222+4446delinsTC	ENSP00000341680.5:n.222+4445_222+4446delinsTC
ENST00000355917.7:c.171+4445_171+4446delinsTC	ENSP00000348183.4:n.171+4445_171+4446delinsTC
ENST00000506844.1:c.*220+4445_*220+4446delinsTC	ENSP00000424202.1:n.*220+4445_*220+4446delinsTC
ENST00000510395.5:c.*132+4445_*132+4446delinsTC	ENSP00000424685.1:n.*132+4445_*132+4446delinsTC
ENST00000511762.2:c.117+4445_117+4446delinsTC	ENSP00000427473.2:n.117+4445_117+4446delinsTC
ENST00000513680.5:c.*220+4445_*220+4446delinsTC	ENSP00000424357.1:n.*220+4445_*220+4446delinsTC
ENST00000515875.5:c.171+4445_171+4446delinsTC	ENSP00000425495.1:n.171+4445_171+4446delinsTC
ENST00000622898.4:c.117+4445_117+4446delinsTC	ENSP00000481997.1:n.117+4445_117+4446delinsTC
NM_001271667.1:c.-22+4445_-22+4446delinsTC	NP_001258596.1:n.-22+4445_-22+4446delinsTC
NM_001271668.1:c.171+4445_171+4446delinsTC	NP_001258597.1:n.171+4445_171+4446delinsTC
NM_001271669.1:c.117+4445_117+4446delinsTC	NP_001258598.1:n.117+4445_117+4446delinsTC
NM_032122.4:c.222+4445_222+4446delinsTC , LRG_588t1:c.222+4445_222+4446delinsTC	NP_115498.2:n.222+4445_222+4446delinsTC
NM_183040.2:c.222+4445_222+4446delinsTC , LRG_588t2:c.222+4445_222+4446delinsTC	NP_898861.1:n.222+4445_222+4446delinsTC
NR_036448.1:n.550+4445_550+4446delinsTC
XM_005249447.3:c.183+4445_183+4446delinsTC	XP_005249504.1:n.183+4445_183+4446delinsTC
XM_011514936.1:c.132+4445_132+4446delinsTC	XP_011513238.1:n.132+4445_132+4446delinsTC
XM_005249447.4:c.183+4445_183+4446delinsTC	XP_005249504.1:n.183+4445_183+4446delinsTC
XM_011514936.3:c.132+4445_132+4446delinsTC	XP_011513238.1:n.132+4445_132+4446delinsTC
NM_032122.5:c.222+4445_222+4446delinsTC MANE Select	NP_115498.2:n.222+4445_222+4446delinsTC
NR_036448.2:n.520+4445_520+4446delinsTC
NM_001271667.2:c.-22+4445_-22+4446delinsTC	NP_001258596.1:n.-22+4445_-22+4446delinsTC
NM_001271668.2:c.171+4445_171+4446delinsTC	NP_001258597.1:n.171+4445_171+4446delinsTC
NM_001271669.2:c.117+4445_117+4446delinsTC	NP_001258598.1:n.117+4445_117+4446delinsTC
NR_036448.3:n.520+4445_520+4446delinsTC