Canonical Allele Identifier: CA135265834

Gene: DTNBP1

Linked Data

• dbSNP Id: rs775383995
• MyVariant Identifiers: chr6:g.15636887_15636899del (hg19) ; chr6:g.15636656_15636668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15636656_15636668del , CM000668.2:g.15636656_15636668del	GRCh38
NC_000006.11:g.15636887_15636899del , CM000668.1:g.15636887_15636899del	GRCh37
NC_000006.10:g.15744866_15744878del	NCBI36
NG_009309.1:g.31373_31385del , LRG_588:g.31373_31385del

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.222+1076_222+1088del MANE Select	ENSP00000341680.6:n.222+1076_222+1088del
ENST00000338950.9:c.222+1076_222+1088del	ENSP00000344718.5:n.222+1076_222+1088del
ENST00000344537.9:c.222+1076_222+1088del	ENSP00000341680.5:n.222+1076_222+1088del
ENST00000355917.7:c.171+1076_171+1088del	ENSP00000348183.4:n.171+1076_171+1088del
ENST00000506844.1:c.*220+1076_*220+1088del	ENSP00000424202.1:n.*220+1076_*220+1088de...
ENST00000510395.5:c.*132+1076_*132+1088del	ENSP00000424685.1:n.*132+1076_*132+1088de...
ENST00000511762.2:c.117+1076_117+1088del	ENSP00000427473.2:n.117+1076_117+1088del
ENST00000513680.5:c.*220+1076_*220+1088del	ENSP00000424357.1:n.*220+1076_*220+1088de...
ENST00000515875.5:c.171+1076_171+1088del	ENSP00000425495.1:n.171+1076_171+1088del
ENST00000622898.4:c.117+1076_117+1088del	ENSP00000481997.1:n.117+1076_117+1088del
NM_001271667.1:c.-22+1076_-22+1088del	NP_001258596.1:n.-22+1076_-22+1088del
NM_001271668.1:c.171+1076_171+1088del	NP_001258597.1:n.171+1076_171+1088del
NM_001271669.1:c.117+1076_117+1088del	NP_001258598.1:n.117+1076_117+1088del
NM_032122.4:c.222+1076_222+1088del , LRG_588t1:c.222+1076_222+1088del	NP_115498.2:n.222+1076_222+1088del
NM_183040.2:c.222+1076_222+1088del , LRG_588t2:c.222+1076_222+1088del	NP_898861.1:n.222+1076_222+1088del
NR_036448.1:n.550+1076_550+1088del
XM_005249447.3:c.183+1076_183+1088del	XP_005249504.1:n.183+1076_183+1088del
XM_011514936.1:c.132+1076_132+1088del	XP_011513238.1:n.132+1076_132+1088del
XM_005249447.4:c.183+1076_183+1088del	XP_005249504.1:n.183+1076_183+1088del
XM_011514936.3:c.132+1076_132+1088del	XP_011513238.1:n.132+1076_132+1088del
NM_032122.5:c.222+1076_222+1088del MANE Select	NP_115498.2:n.222+1076_222+1088del
NR_036448.2:n.520+1076_520+1088del
NM_001271667.2:c.-22+1076_-22+1088del	NP_001258596.1:n.-22+1076_-22+1088del
NM_001271668.2:c.171+1076_171+1088del	NP_001258597.1:n.171+1076_171+1088del
NM_001271669.2:c.117+1076_117+1088del	NP_001258598.1:n.117+1076_117+1088del
NR_036448.3:n.520+1076_520+1088del