Canonical Allele Identifier: CA2677408336

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15637605-TAATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637608_15637611del , CM000668.2:g.15637608_15637611del	GRCh38
NC_000006.11:g.15637839_15637842del , CM000668.1:g.15637839_15637842del	GRCh37
NC_000006.10:g.15745818_15745821del	NCBI36
NG_009309.1:g.30432_30435del , LRG_588:g.30432_30435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.222+135_222+138del MANE Select	ENSP00000341680.6:n.222+135_222+138del
ENST00000338950.9:c.222+135_222+138del	ENSP00000344718.5:n.222+135_222+138del
ENST00000344537.9:c.222+135_222+138del	ENSP00000341680.5:n.222+135_222+138del
ENST00000355917.7:c.171+135_171+138del	ENSP00000348183.4:n.171+135_171+138del
ENST00000506844.1:c.*220+135_*220+138del	ENSP00000424202.1:n.*220+135_*220+138del
ENST00000510395.5:c.*132+135_*132+138del	ENSP00000424685.1:n.*132+135_*132+138del
ENST00000511762.2:c.117+135_117+138del	ENSP00000427473.2:n.117+135_117+138del
ENST00000513680.5:c.*220+135_*220+138del	ENSP00000424357.1:n.*220+135_*220+138del
ENST00000515875.5:c.171+135_171+138del	ENSP00000425495.1:n.171+135_171+138del
ENST00000622898.4:c.117+135_117+138del	ENSP00000481997.1:n.117+135_117+138del
NM_001271667.1:c.-22+135_-22+138del	NP_001258596.1:n.-22+135_-22+138del
NM_001271668.1:c.171+135_171+138del	NP_001258597.1:n.171+135_171+138del
NM_001271669.1:c.117+135_117+138del	NP_001258598.1:n.117+135_117+138del
NM_032122.4:c.222+135_222+138del , LRG_588t1:c.222+135_222+138del	NP_115498.2:n.222+135_222+138del
NM_183040.2:c.222+135_222+138del , LRG_588t2:c.222+135_222+138del	NP_898861.1:n.222+135_222+138del
NR_036448.1:n.550+135_550+138del
XM_005249447.3:c.183+135_183+138del	XP_005249504.1:n.183+135_183+138del
XM_011514936.1:c.132+135_132+138del	XP_011513238.1:n.132+135_132+138del
XM_005249447.4:c.183+135_183+138del	XP_005249504.1:n.183+135_183+138del
XM_011514936.3:c.132+135_132+138del	XP_011513238.1:n.132+135_132+138del
NM_032122.5:c.222+135_222+138del MANE Select	NP_115498.2:n.222+135_222+138del
NR_036448.2:n.520+135_520+138del
NM_001271667.2:c.-22+135_-22+138del	NP_001258596.1:n.-22+135_-22+138del
NM_001271668.2:c.171+135_171+138del	NP_001258597.1:n.171+135_171+138del
NM_001271669.2:c.117+135_117+138del	NP_001258598.1:n.117+135_117+138del
NR_036448.3:n.520+135_520+138del