Canonical Allele Identifier: CA821260577

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1463022404
• gnomAD v3: 6-15650895-CTTG-C
• gnomAD v4: 6-15650895-CTTG-C
• MyVariant Identifiers: chr6:g.15651127_15651129del (hg19) ; chr6:g.15650896_15650898del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15650901_15650903del , CM000668.2:g.15650901_15650903del	GRCh38
NC_000006.11:g.15651132_15651134del , CM000668.1:g.15651132_15651134del	GRCh37
NC_000006.10:g.15759111_15759113del	NCBI36
NG_009309.1:g.17143_17145del , LRG_588:g.17143_17145del

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.161+415_161+417del MANE Select	ENSP00000341680.6:n.161+415_161+417del
ENST00000338950.9:c.161+415_161+417del	ENSP00000344718.5:n.161+415_161+417del
ENST00000344537.9:c.161+415_161+417del	ENSP00000341680.5:n.161+415_161+417del
ENST00000355917.7:c.110+1189_110+1191del	ENSP00000348183.4:n.110+1189_110+1191del
ENST00000506844.1:c.*159+415_*159+417del	ENSP00000424202.1:n.*159+415_*159+417del
ENST00000510395.5:c.*71+415_*71+417del	ENSP00000424685.1:n.*71+415_*71+417del
ENST00000511762.2:c.56+11916_56+11918del	ENSP00000427473.2:n.56+11916_56+11918del
ENST00000513680.5:c.*159+415_*159+417del	ENSP00000424357.1:n.*159+415_*159+417del
ENST00000515875.5:c.110+1189_110+1191del	ENSP00000425495.1:n.110+1189_110+1191del
ENST00000622898.4:c.56+11916_56+11918del	ENSP00000481997.1:n.56+11916_56+11918del
NM_001271667.1:c.-83+415_-83+417del	NP_001258596.1:n.-83+415_-83+417del
NM_001271668.1:c.110+1189_110+1191del	NP_001258597.1:n.110+1189_110+1191del
NM_001271669.1:c.56+11916_56+11918del	NP_001258598.1:n.56+11916_56+11918del
NM_032122.4:c.161+415_161+417del , LRG_588t1:c.161+415_161+417del	NP_115498.2:n.161+415_161+417del
NM_183040.2:c.161+415_161+417del , LRG_588t2:c.161+415_161+417del	NP_898861.1:n.161+415_161+417del
NR_036448.1:n.489+415_489+417del
XM_005249447.3:c.122+415_122+417del	XP_005249504.1:n.122+415_122+417del
XM_011514936.1:c.71+1189_71+1191del	XP_011513238.1:n.71+1189_71+1191del
XM_005249447.4:c.122+415_122+417del	XP_005249504.1:n.122+415_122+417del
XM_011514936.3:c.71+1189_71+1191del	XP_011513238.1:n.71+1189_71+1191del
NM_032122.5:c.161+415_161+417del MANE Select	NP_115498.2:n.161+415_161+417del
NR_036448.2:n.459+415_459+417del
NM_001271667.2:c.-83+415_-83+417del	NP_001258596.1:n.-83+415_-83+417del
NM_001271668.2:c.110+1189_110+1191del	NP_001258597.1:n.110+1189_110+1191del
NM_001271669.2:c.56+11916_56+11918del	NP_001258598.1:n.56+11916_56+11918del
NR_036448.3:n.459+415_459+417del