Canonical Allele Identifier: CA821192965

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1411785170
• MyVariant Identifiers: chr6:g.15627446_15627448del (hg19) ; chr6:g.15627215_15627217del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627217_15627219del , CM000668.2:g.15627217_15627219del	GRCh38
NC_000006.11:g.15627448_15627450del , CM000668.1:g.15627448_15627450del	GRCh37
NC_000006.10:g.15735427_15735429del	NCBI36
NG_009309.1:g.40824_40826del , LRG_588:g.40824_40826del

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.355+126_355+128del MANE Select	ENSP00000341680.6:n.355+126_355+128del
ENST00000338950.9:c.355+126_355+128del	ENSP00000344718.5:n.355+126_355+128del
ENST00000344537.9:c.355+126_355+128del	ENSP00000341680.5:n.355+126_355+128del
ENST00000355917.7:c.304+126_304+128del	ENSP00000348183.4:n.304+126_304+128del
ENST00000506844.1:c.*353+126_*353+128del	ENSP00000424202.1:n.*353+126_*353+128del
ENST00000510395.5:c.*265+126_*265+128del	ENSP00000424685.1:n.*265+126_*265+128del
ENST00000511762.2:c.250+126_250+128del	ENSP00000427473.2:n.250+126_250+128del
ENST00000513680.5:c.*353+126_*353+128del	ENSP00000424357.1:n.*353+126_*353+128del
ENST00000515875.5:c.304+126_304+128del	ENSP00000425495.1:n.304+126_304+128del
ENST00000622898.4:c.250+126_250+128del	ENSP00000481997.1:n.250+126_250+128del
NM_001271667.1:c.112+126_112+128del	NP_001258596.1:n.112+126_112+128del
NM_001271668.1:c.304+126_304+128del	NP_001258597.1:n.304+126_304+128del
NM_001271669.1:c.250+126_250+128del	NP_001258598.1:n.250+126_250+128del
NM_032122.4:c.355+126_355+128del , LRG_588t1:c.355+126_355+128del	NP_115498.2:n.355+126_355+128del
NM_183040.2:c.355+126_355+128del , LRG_588t2:c.355+126_355+128del	NP_898861.1:n.355+126_355+128del
NR_036448.1:n.683+126_683+128del
XM_005249447.3:c.316+126_316+128del	XP_005249504.1:n.316+126_316+128del
XM_011514936.1:c.265+126_265+128del	XP_011513238.1:n.265+126_265+128del
XM_005249447.4:c.316+126_316+128del	XP_005249504.1:n.316+126_316+128del
XM_011514936.3:c.265+126_265+128del	XP_011513238.1:n.265+126_265+128del
NM_032122.5:c.355+126_355+128del MANE Select	NP_115498.2:n.355+126_355+128del
NR_036448.2:n.653+126_653+128del
NM_001271667.2:c.112+126_112+128del	NP_001258596.1:n.112+126_112+128del
NM_001271668.2:c.304+126_304+128del	NP_001258597.1:n.304+126_304+128del
NM_001271669.2:c.250+126_250+128del	NP_001258598.1:n.250+126_250+128del
NR_036448.3:n.653+126_653+128del