Canonical Allele Identifier: CA1086292678

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1759407315
• gnomAD v3: 6-15627359-G-GC
• gnomAD v4: 6-15627359-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627359_15627360insC , CM000668.2:g.15627359_15627360insC	GRCh38
NC_000006.11:g.15627590_15627591insC , CM000668.1:g.15627590_15627591insC	GRCh37
NC_000006.10:g.15735569_15735570insC	NCBI36
NG_009309.1:g.40681_40682insG , LRG_588:g.40681_40682insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.338_339insG MANE Select	ENSP00000341680.6:p.Met114HisfsTer13
ENST00000338950.9:c.338_339insG	ENSP00000344718.5:p.Met114HisfsTer13
ENST00000344537.9:c.338_339insG	ENSP00000341680.5:p.Met114HisfsTer13
ENST00000355917.7:c.287_288insG	ENSP00000348183.4:p.Met97HisfsTer13
ENST00000506844.1:c.*336_*337insG	ENSP00000424202.1:n.*336_*337insG
ENST00000510395.5:c.*248_*249insG	ENSP00000424685.1:n.*248_*249insG
ENST00000511762.2:c.233_234insG	ENSP00000427473.2:p.Met79HisfsTer13
ENST00000513680.5:c.*336_*337insG	ENSP00000424357.1:n.*336_*337insG
ENST00000515875.5:c.287_288insG	ENSP00000425495.1:p.Met97HisfsTer13
ENST00000622898.4:c.233_234insG	ENSP00000481997.1:p.Met79HisfsTer13
NM_001271667.1:c.95_96insG	NP_001258596.1:p.Met33HisfsTer13
NM_001271668.1:c.287_288insG	NP_001258597.1:p.Met97HisfsTer13
NM_001271669.1:c.233_234insG	NP_001258598.1:p.Met79HisfsTer13
NM_032122.4:c.338_339insG , LRG_588t1:c.338_339insG	NP_115498.2:p.Met114HisfsTer13
NM_183040.2:c.338_339insG , LRG_588t2:c.338_339insG	NP_898861.1:p.Met114HisfsTer13
NR_036448.1:n.666_667insG
XM_005249447.3:c.299_300insG	XP_005249504.1:p.Met101HisfsTer13
XM_011514936.1:c.248_249insG	XP_011513238.1:p.Met84HisfsTer13
XM_005249447.4:c.299_300insG	XP_005249504.1:p.Met101HisfsTer13
XM_011514936.3:c.248_249insG	XP_011513238.1:p.Met84HisfsTer13
NM_032122.5:c.338_339insG MANE Select	NP_115498.2:p.Met114HisfsTer13
NR_036448.2:n.636_637insG
NM_001271667.2:c.95_96insG	NP_001258596.1:p.Met33HisfsTer13
NM_001271668.2:c.287_288insG	NP_001258597.1:p.Met97HisfsTer13
NM_001271669.2:c.233_234insG	NP_001258598.1:p.Met79HisfsTer13
NR_036448.3:n.636_637insG