Canonical Allele Identifier: CA3644220

Gene: DTNBP1

Linked Data

• dbSNP Id: rs762195504
• ExAC: 6:15638037 TA / T
• gnomAD v2: 6-15638037-TA-T
• gnomAD v3: 6-15637806-TA-T
• gnomAD v4: 6-15637806-TA-T
• COSMIC: COSM1718703 ; COSM1718704 ; COSM3728885
• MyVariant Identifiers: chr6:g.15638038del (hg19) ; chr6:g.15637807del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637814del , CM000668.2:g.15637814del	GRCh38
NC_000006.11:g.15638045del , CM000668.1:g.15638045del	GRCh37
NC_000006.10:g.15746024del	NCBI36
NG_009309.1:g.30234del , LRG_588:g.30234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.162-3del MANE Select	ENSP00000341680.6:n.162-3del
ENST00000338950.9:c.162-3del	ENSP00000344718.5:n.162-3del
ENST00000344537.9:c.162-3del	ENSP00000341680.5:n.162-3del
ENST00000355917.7:c.111-3del	ENSP00000348183.4:n.111-3del
ENST00000506844.1:c.*160-3del	ENSP00000424202.1:n.*160-3del
ENST00000510395.5:c.*72-3del	ENSP00000424685.1:n.*72-3del
ENST00000511762.2:c.57-3del	ENSP00000427473.2:n.57-3del
ENST00000513680.5:c.*160-3del	ENSP00000424357.1:n.*160-3del
ENST00000515875.5:c.111-3del	ENSP00000425495.1:n.111-3del
ENST00000622898.4:c.57-3del	ENSP00000481997.1:n.57-3del
NM_001271667.1:c.-82-3del	NP_001258596.1:n.-82-3del
NM_001271668.1:c.111-3del	NP_001258597.1:n.111-3del
NM_001271669.1:c.57-3del	NP_001258598.1:n.57-3del
NM_032122.4:c.162-3del , LRG_588t1:c.162-3del	NP_115498.2:n.162-3del
NM_183040.2:c.162-3del , LRG_588t2:c.162-3del	NP_898861.1:n.162-3del
NR_036448.1:n.490-3del
XM_005249447.3:c.123-3del	XP_005249504.1:n.123-3del
XM_011514936.1:c.72-3del	XP_011513238.1:n.72-3del
XM_005249447.4:c.123-3del	XP_005249504.1:n.123-3del
XM_011514936.3:c.72-3del	XP_011513238.1:n.72-3del
NM_032122.5:c.162-3del MANE Select	NP_115498.2:n.162-3del
NR_036448.2:n.460-3del
NM_001271667.2:c.-82-3del	NP_001258596.1:n.-82-3del
NM_001271668.2:c.111-3del	NP_001258597.1:n.111-3del
NM_001271669.2:c.57-3del	NP_001258598.1:n.57-3del
NR_036448.3:n.460-3del