Canonical Allele Identifier: CA135267874

Gene: DTNBP1

Linked Data

• dbSNP Id: rs987660087
• gnomAD v2: 6-15656885-GGGTGGATT-G
• gnomAD v3: 6-15656654-GGGTGGATT-G
• gnomAD v4: 6-15656654-GGGTGGATT-G
• MyVariant Identifiers: chr6:g.15656886_15656893del (hg19) ; chr6:g.15656655_15656662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15656656_15656663del , CM000668.2:g.15656656_15656663del	GRCh38
NC_000006.11:g.15656887_15656894del , CM000668.1:g.15656887_15656894del	GRCh37
NC_000006.10:g.15764866_15764873del	NCBI36
NG_009309.1:g.11379_11386del , LRG_588:g.11379_11386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.57-4522_57-4515del MANE Select	ENSP00000341680.6:n.57-4522_57-4515del
ENST00000338950.9:c.57-4522_57-4515del	ENSP00000344718.5:n.57-4522_57-4515del
ENST00000344537.9:c.57-4522_57-4515del	ENSP00000341680.5:n.57-4522_57-4515del
ENST00000355917.7:c.57-4522_57-4515del	ENSP00000348183.4:n.57-4522_57-4515del
ENST00000506844.1:c.*54+3721_*54+3728del	ENSP00000424202.1:n.*54+3721_*54+3728del
ENST00000510395.5:c.57-4522_57-4515del	ENSP00000424685.1:n.57-4522_57-4515del
ENST00000511762.2:c.56+6152_56+6159del	ENSP00000427473.2:n.56+6152_56+6159del
ENST00000513680.5:c.*54+3721_*54+3728del	ENSP00000424357.1:n.*54+3721_*54+3728del
ENST00000515875.5:c.57-4522_57-4515del	ENSP00000425495.1:n.57-4522_57-4515del
ENST00000622898.4:c.56+6152_56+6159del	ENSP00000481997.1:n.56+6152_56+6159del
NM_001271667.1:c.-232-4522_-232-4515del	NP_001258596.1:n.-232-4522_-232-4515del
NM_001271668.1:c.57-4522_57-4515del	NP_001258597.1:n.57-4522_57-4515del
NM_001271669.1:c.56+6152_56+6159del	NP_001258598.1:n.56+6152_56+6159del
NM_032122.4:c.57-4522_57-4515del , LRG_588t1:c.57-4522_57-4515del	NP_115498.2:n.57-4522_57-4515del
NM_183040.2:c.57-4522_57-4515del , LRG_588t2:c.57-4522_57-4515del	NP_898861.1:n.57-4522_57-4515del
NR_036448.1:n.384+3721_384+3728del
XM_005249447.3:c.17+3721_17+3728del	XP_005249504.1:n.17+3721_17+3728del
XM_011514936.1:c.17+3721_17+3728del	XP_011513238.1:n.17+3721_17+3728del
XM_005249447.4:c.17+3721_17+3728del	XP_005249504.1:n.17+3721_17+3728del
XM_011514936.3:c.17+3721_17+3728del	XP_011513238.1:n.17+3721_17+3728del
NM_032122.5:c.57-4522_57-4515del MANE Select	NP_115498.2:n.57-4522_57-4515del
NR_036448.2:n.354+3721_354+3728del
NM_001271667.2:c.-232-4522_-232-4515del	NP_001258596.1:n.-232-4522_-232-4515del
NM_001271668.2:c.57-4522_57-4515del	NP_001258597.1:n.57-4522_57-4515del
NM_001271669.2:c.56+6152_56+6159del	NP_001258598.1:n.56+6152_56+6159del
NR_036448.3:n.354+3721_354+3728del