Canonical Allele Identifier: CA2677408288

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15627585-GAGATTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627586_15627591del , CM000668.2:g.15627586_15627591del	GRCh38
NC_000006.11:g.15627817_15627822del , CM000668.1:g.15627817_15627822del	GRCh37
NC_000006.10:g.15735796_15735801del	NCBI36
NG_009309.1:g.40450_40455del , LRG_588:g.40450_40455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.223-116_223-111del MANE Select	ENSP00000341680.6:n.223-116_223-111del
ENST00000338950.9:c.223-116_223-111del	ENSP00000344718.5:n.223-116_223-111del
ENST00000344537.9:c.223-116_223-111del	ENSP00000341680.5:n.223-116_223-111del
ENST00000355917.7:c.172-116_172-111del	ENSP00000348183.4:n.172-116_172-111del
ENST00000506844.1:c.*221-116_*221-111del	ENSP00000424202.1:n.*221-116_*221-111del
ENST00000510395.5:c.*133-116_*133-111del	ENSP00000424685.1:n.*133-116_*133-111del
ENST00000511762.2:c.118-116_118-111del	ENSP00000427473.2:n.118-116_118-111del
ENST00000513680.5:c.*221-116_*221-111del	ENSP00000424357.1:n.*221-116_*221-111del
ENST00000515875.5:c.172-116_172-111del	ENSP00000425495.1:n.172-116_172-111del
ENST00000622898.4:c.118-116_118-111del	ENSP00000481997.1:n.118-116_118-111del
NM_001271667.1:c.-21-116_-21-111del	NP_001258596.1:n.-21-116_-21-111del
NM_001271668.1:c.172-116_172-111del	NP_001258597.1:n.172-116_172-111del
NM_001271669.1:c.118-116_118-111del	NP_001258598.1:n.118-116_118-111del
NM_032122.4:c.223-116_223-111del , LRG_588t1:c.223-116_223-111del	NP_115498.2:n.223-116_223-111del
NM_183040.2:c.223-116_223-111del , LRG_588t2:c.223-116_223-111del	NP_898861.1:n.223-116_223-111del
NR_036448.1:n.551-116_551-111del
XM_005249447.3:c.184-116_184-111del	XP_005249504.1:n.184-116_184-111del
XM_011514936.1:c.133-116_133-111del	XP_011513238.1:n.133-116_133-111del
XM_005249447.4:c.184-116_184-111del	XP_005249504.1:n.184-116_184-111del
XM_011514936.3:c.133-116_133-111del	XP_011513238.1:n.133-116_133-111del
NM_032122.5:c.223-116_223-111del MANE Select	NP_115498.2:n.223-116_223-111del
NR_036448.2:n.521-116_521-111del
NM_001271667.2:c.-21-116_-21-111del	NP_001258596.1:n.-21-116_-21-111del
NM_001271668.2:c.172-116_172-111del	NP_001258597.1:n.172-116_172-111del
NM_001271669.2:c.118-116_118-111del	NP_001258598.1:n.118-116_118-111del
NR_036448.3:n.521-116_521-111del