Canonical Allele Identifier: CA2711042277

Gene: DTNBP1

Linked Data

• dbSNP Id: rs2113765788

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15636521_15636522del , CM000668.2:g.15636521_15636522del	GRCh38
NC_000006.11:g.15636752_15636753del , CM000668.1:g.15636752_15636753del	GRCh37
NC_000006.10:g.15744731_15744732del	NCBI36
NG_009309.1:g.31520_31521del , LRG_588:g.31520_31521del

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.222+1223_222+1224del MANE Select	ENSP00000341680.6:n.222+1223_222+1224del
ENST00000338950.9:c.222+1223_222+1224del	ENSP00000344718.5:n.222+1223_222+1224del
ENST00000344537.9:c.222+1223_222+1224del	ENSP00000341680.5:n.222+1223_222+1224del
ENST00000355917.7:c.171+1223_171+1224del	ENSP00000348183.4:n.171+1223_171+1224del
ENST00000506844.1:c.*220+1223_*220+1224del	ENSP00000424202.1:n.*220+1223_*220+1224de...
ENST00000510395.5:c.*132+1223_*132+1224del	ENSP00000424685.1:n.*132+1223_*132+1224de...
ENST00000511762.2:c.117+1223_117+1224del	ENSP00000427473.2:n.117+1223_117+1224del
ENST00000513680.5:c.*220+1223_*220+1224del	ENSP00000424357.1:n.*220+1223_*220+1224de...
ENST00000515875.5:c.171+1223_171+1224del	ENSP00000425495.1:n.171+1223_171+1224del
ENST00000622898.4:c.117+1223_117+1224del	ENSP00000481997.1:n.117+1223_117+1224del
NM_001271667.1:c.-22+1223_-22+1224del	NP_001258596.1:n.-22+1223_-22+1224del
NM_001271668.1:c.171+1223_171+1224del	NP_001258597.1:n.171+1223_171+1224del
NM_001271669.1:c.117+1223_117+1224del	NP_001258598.1:n.117+1223_117+1224del
NM_032122.4:c.222+1223_222+1224del , LRG_588t1:c.222+1223_222+1224del	NP_115498.2:n.222+1223_222+1224del
NM_183040.2:c.222+1223_222+1224del , LRG_588t2:c.222+1223_222+1224del	NP_898861.1:n.222+1223_222+1224del
NR_036448.1:n.550+1223_550+1224del
XM_005249447.3:c.183+1223_183+1224del	XP_005249504.1:n.183+1223_183+1224del
XM_011514936.1:c.132+1223_132+1224del	XP_011513238.1:n.132+1223_132+1224del
XM_005249447.4:c.183+1223_183+1224del	XP_005249504.1:n.183+1223_183+1224del
XM_011514936.3:c.132+1223_132+1224del	XP_011513238.1:n.132+1223_132+1224del
NM_032122.5:c.222+1223_222+1224del MANE Select	NP_115498.2:n.222+1223_222+1224del
NR_036448.2:n.520+1223_520+1224del
NM_001271667.2:c.-22+1223_-22+1224del	NP_001258596.1:n.-22+1223_-22+1224del
NM_001271668.2:c.171+1223_171+1224del	NP_001258597.1:n.171+1223_171+1224del
NM_001271669.2:c.117+1223_117+1224del	NP_001258598.1:n.117+1223_117+1224del
NR_036448.3:n.520+1223_520+1224del