Canonical Allele Identifier: CA565719963

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1481049866
• gnomAD v2: 6-15651080-AC-A
• MyVariant Identifiers: chr6:g.15651081del (hg19) ; chr6:g.15650850del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15650850del , CM000668.2:g.15650850del	GRCh38
NC_000006.11:g.15651081del , CM000668.1:g.15651081del	GRCh37
NC_000006.10:g.15759060del	NCBI36
NG_009309.1:g.17191del , LRG_588:g.17191del

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.161+463del MANE Select	ENSP00000341680.6:n.161+463del
ENST00000338950.9:c.161+463del	ENSP00000344718.5:n.161+463del
ENST00000344537.9:c.161+463del	ENSP00000341680.5:n.161+463del
ENST00000355917.7:c.110+1237del	ENSP00000348183.4:n.110+1237del
ENST00000506844.1:c.*159+463del	ENSP00000424202.1:n.*159+463del
ENST00000510395.5:c.*71+463del	ENSP00000424685.1:n.*71+463del
ENST00000511762.2:c.56+11964del	ENSP00000427473.2:n.56+11964del
ENST00000513680.5:c.*159+463del	ENSP00000424357.1:n.*159+463del
ENST00000515875.5:c.110+1237del	ENSP00000425495.1:n.110+1237del
ENST00000622898.4:c.56+11964del	ENSP00000481997.1:n.56+11964del
NM_001271667.1:c.-83+463del	NP_001258596.1:n.-83+463del
NM_001271668.1:c.110+1237del	NP_001258597.1:n.110+1237del
NM_001271669.1:c.56+11964del	NP_001258598.1:n.56+11964del
NM_032122.4:c.161+463del , LRG_588t1:c.161+463del	NP_115498.2:n.161+463del
NM_183040.2:c.161+463del , LRG_588t2:c.161+463del	NP_898861.1:n.161+463del
NR_036448.1:n.489+463del
XM_005249447.3:c.122+463del	XP_005249504.1:n.122+463del
XM_011514936.1:c.71+1237del	XP_011513238.1:n.71+1237del
XM_005249447.4:c.122+463del	XP_005249504.1:n.122+463del
XM_011514936.3:c.71+1237del	XP_011513238.1:n.71+1237del
NM_032122.5:c.161+463del MANE Select	NP_115498.2:n.161+463del
NR_036448.2:n.459+463del
NM_001271667.2:c.-83+463del	NP_001258596.1:n.-83+463del
NM_001271668.2:c.110+1237del	NP_001258597.1:n.110+1237del
NM_001271669.2:c.56+11964del	NP_001258598.1:n.56+11964del
NR_036448.3:n.459+463del