Canonical Allele Identifier: CA565714628

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1250089628
• gnomAD v2: 6-15627615-G-GGGAGCTGCT
• gnomAD v4: 6-15627384-G-GGGAGCTGCT
• MyVariant Identifiers: chr6:g.15627615_15627616insGGAGCTGCT (hg19) ; chr6:g.15627384_15627385insGGAGCTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627394_15627402dup , CM000668.2:g.15627394_15627402dup	GRCh38
NC_000006.11:g.15627625_15627633dup , CM000668.1:g.15627625_15627633dup	GRCh37
NC_000006.10:g.15735604_15735612dup	NCBI36
NG_009309.1:g.40648_40656dup , LRG_588:g.40648_40656dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.305_313dup MANE Select	ENSP00000341680.6:p.Leu104_Pro105insGlnGlnLeu
ENST00000338950.9:c.305_313dup	ENSP00000344718.5:p.Leu104_Pro105insGlnGlnLeu
ENST00000344537.9:c.305_313dup	ENSP00000341680.5:p.Leu104_Pro105insGlnGlnLeu
ENST00000355917.7:c.254_262dup	ENSP00000348183.4:p.Leu87_Pro88insGlnGlnLeu
ENST00000506844.1:c.*303_*311dup	ENSP00000424202.1:n.*303_*311dup
ENST00000510395.5:c.*215_*223dup	ENSP00000424685.1:n.*215_*223dup
ENST00000511762.2:c.200_208dup	ENSP00000427473.2:p.Leu69_Pro70insGlnGlnLeu
ENST00000513680.5:c.*303_*311dup	ENSP00000424357.1:n.*303_*311dup
ENST00000515875.5:c.254_262dup	ENSP00000425495.1:p.Leu87_Pro88insGlnGlnLeu
ENST00000622898.4:c.200_208dup	ENSP00000481997.1:p.Leu69_Pro70insGlnGlnLeu
NM_001271667.1:c.62_70dup	NP_001258596.1:p.Leu23_Pro24insGlnGlnLeu
NM_001271668.1:c.254_262dup	NP_001258597.1:p.Leu87_Pro88insGlnGlnLeu
NM_001271669.1:c.200_208dup	NP_001258598.1:p.Leu69_Pro70insGlnGlnLeu
NM_032122.4:c.305_313dup , LRG_588t1:c.305_313dup	NP_115498.2:p.Leu104_Pro105insGlnGlnLeu
NM_183040.2:c.305_313dup , LRG_588t2:c.305_313dup	NP_898861.1:p.Leu104_Pro105insGlnGlnLeu
NR_036448.1:n.633_641dup
XM_005249447.3:c.266_274dup	XP_005249504.1:p.Leu91_Pro92insGlnGlnLeu
XM_011514936.1:c.215_223dup	XP_011513238.1:p.Leu74_Pro75insGlnGlnLeu
XM_005249447.4:c.266_274dup	XP_005249504.1:p.Leu91_Pro92insGlnGlnLeu
XM_011514936.3:c.215_223dup	XP_011513238.1:p.Leu74_Pro75insGlnGlnLeu
NM_032122.5:c.305_313dup MANE Select	NP_115498.2:p.Leu104_Pro105insGlnGlnLeu
NR_036448.2:n.603_611dup
NM_001271667.2:c.62_70dup	NP_001258596.1:p.Leu23_Pro24insGlnGlnLeu
NM_001271668.2:c.254_262dup	NP_001258597.1:p.Leu87_Pro88insGlnGlnLeu
NM_001271669.2:c.200_208dup	NP_001258598.1:p.Leu69_Pro70insGlnGlnLeu
NR_036448.3:n.603_611dup