Canonical Allele Identifier: CA1612384530

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627214_15627217delinsCATG , CM000668.2:g.15627214_15627217delinsCATG	GRCh38
NC_000006.11:g.15627445_15627448delinsCATG , CM000668.1:g.15627445_15627448delinsCATG	GRCh37
NC_000006.10:g.15735424_15735427delinsCATG	NCBI36
NG_009309.1:g.40824_40827delinsCATG , LRG_588:g.40824_40827delinsCATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.355+126_355+129delinsCATG MANE Select	ENSP00000341680.6:n.355+126_355+129delinsCATG
ENST00000338950.9:c.355+126_355+129delinsCATG	ENSP00000344718.5:n.355+126_355+129delinsCATG
ENST00000344537.9:c.355+126_355+129delinsCATG	ENSP00000341680.5:n.355+126_355+129delinsCATG
ENST00000355917.7:c.304+126_304+129delinsCATG	ENSP00000348183.4:n.304+126_304+129delinsCATG
ENST00000506844.1:c.*353+126_*353+129delinsCATG	ENSP00000424202.1:n.*353+126_*353+129delinsCATG
ENST00000510395.5:c.*265+126_*265+129delinsCATG	ENSP00000424685.1:n.*265+126_*265+129delinsCATG
ENST00000511762.2:c.250+126_250+129delinsCATG	ENSP00000427473.2:n.250+126_250+129delinsCATG
ENST00000513680.5:c.*353+126_*353+129delinsCATG	ENSP00000424357.1:n.*353+126_*353+129delinsCATG
ENST00000515875.5:c.304+126_304+129delinsCATG	ENSP00000425495.1:n.304+126_304+129delinsCATG
ENST00000622898.4:c.250+126_250+129delinsCATG	ENSP00000481997.1:n.250+126_250+129delinsCATG
NM_001271667.1:c.112+126_112+129delinsCATG	NP_001258596.1:n.112+126_112+129delinsCATG
NM_001271668.1:c.304+126_304+129delinsCATG	NP_001258597.1:n.304+126_304+129delinsCATG
NM_001271669.1:c.250+126_250+129delinsCATG	NP_001258598.1:n.250+126_250+129delinsCATG
NM_032122.4:c.355+126_355+129delinsCATG , LRG_588t1:c.355+126_355+129delinsCATG	NP_115498.2:n.355+126_355+129delinsCATG
NM_183040.2:c.355+126_355+129delinsCATG , LRG_588t2:c.355+126_355+129delinsCATG	NP_898861.1:n.355+126_355+129delinsCATG
NR_036448.1:n.683+126_683+129delinsCATG
XM_005249447.3:c.316+126_316+129delinsCATG	XP_005249504.1:n.316+126_316+129delinsCATG
XM_011514936.1:c.265+126_265+129delinsCATG	XP_011513238.1:n.265+126_265+129delinsCATG
XM_005249447.4:c.316+126_316+129delinsCATG	XP_005249504.1:n.316+126_316+129delinsCATG
XM_011514936.3:c.265+126_265+129delinsCATG	XP_011513238.1:n.265+126_265+129delinsCATG
NM_032122.5:c.355+126_355+129delinsCATG MANE Select	NP_115498.2:n.355+126_355+129delinsCATG
NR_036448.2:n.653+126_653+129delinsCATG
NM_001271667.2:c.112+126_112+129delinsCATG	NP_001258596.1:n.112+126_112+129delinsCATG
NM_001271668.2:c.304+126_304+129delinsCATG	NP_001258597.1:n.304+126_304+129delinsCATG
NM_001271669.2:c.250+126_250+129delinsCATG	NP_001258598.1:n.250+126_250+129delinsCATG
NR_036448.3:n.653+126_653+129delinsCATG