Canonical Allele Identifier: CA565716229

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1483096698
• gnomAD v2: 6-15633429-T-TAACG
• gnomAD v3: 6-15633198-T-TAACG
• gnomAD v4: 6-15633198-T-TAACG
• MyVariant Identifiers: chr6:g.15633429_15633430insAACG (hg19) ; chr6:g.15633198_15633199insAACG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15633200_15633201insCGAA , CM000668.2:g.15633200_15633201insCGAA	GRCh38
NC_000006.11:g.15633431_15633432insCGAA , CM000668.1:g.15633431_15633432insCGAA	GRCh37
NC_000006.10:g.15741410_15741411insCGAA	NCBI36
NG_009309.1:g.34842_34843insCGTT , LRG_588:g.34842_34843insCGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.222+4545_222+4546insCGTT MANE Select	ENSP00000341680.6:n.222+4545_222+4546insCGTT
ENST00000338950.9:c.222+4545_222+4546insCGTT	ENSP00000344718.5:n.222+4545_222+4546insCGTT
ENST00000344537.9:c.222+4545_222+4546insCGTT	ENSP00000341680.5:n.222+4545_222+4546insCGTT
ENST00000355917.7:c.171+4545_171+4546insCGTT	ENSP00000348183.4:n.171+4545_171+4546insCGTT
ENST00000506844.1:c.*220+4545_*220+4546insCGTT	ENSP00000424202.1:n.*220+4545_*220+4546insCGTT
ENST00000510395.5:c.*132+4545_*132+4546insCGTT	ENSP00000424685.1:n.*132+4545_*132+4546insCGTT
ENST00000511762.2:c.117+4545_117+4546insCGTT	ENSP00000427473.2:n.117+4545_117+4546insCGTT
ENST00000513680.5:c.*220+4545_*220+4546insCGTT	ENSP00000424357.1:n.*220+4545_*220+4546insCGTT
ENST00000515875.5:c.171+4545_171+4546insCGTT	ENSP00000425495.1:n.171+4545_171+4546insCGTT
ENST00000622898.4:c.117+4545_117+4546insCGTT	ENSP00000481997.1:n.117+4545_117+4546insCGTT
NM_001271667.1:c.-22+4545_-22+4546insCGTT	NP_001258596.1:n.-22+4545_-22+4546insCGTT
NM_001271668.1:c.171+4545_171+4546insCGTT	NP_001258597.1:n.171+4545_171+4546insCGTT
NM_001271669.1:c.117+4545_117+4546insCGTT	NP_001258598.1:n.117+4545_117+4546insCGTT
NM_032122.4:c.222+4545_222+4546insCGTT , LRG_588t1:c.222+4545_222+4546insCGTT	NP_115498.2:n.222+4545_222+4546insCGTT
NM_183040.2:c.222+4545_222+4546insCGTT , LRG_588t2:c.222+4545_222+4546insCGTT	NP_898861.1:n.222+4545_222+4546insCGTT
NR_036448.1:n.550+4545_550+4546insCGTT
XM_005249447.3:c.183+4545_183+4546insCGTT	XP_005249504.1:n.183+4545_183+4546insCGTT
XM_011514936.1:c.132+4545_132+4546insCGTT	XP_011513238.1:n.132+4545_132+4546insCGTT
XM_005249447.4:c.183+4545_183+4546insCGTT	XP_005249504.1:n.183+4545_183+4546insCGTT
XM_011514936.3:c.132+4545_132+4546insCGTT	XP_011513238.1:n.132+4545_132+4546insCGTT
NM_032122.5:c.222+4545_222+4546insCGTT MANE Select	NP_115498.2:n.222+4545_222+4546insCGTT
NR_036448.2:n.520+4545_520+4546insCGTT
NM_001271667.2:c.-22+4545_-22+4546insCGTT	NP_001258596.1:n.-22+4545_-22+4546insCGTT
NM_001271668.2:c.171+4545_171+4546insCGTT	NP_001258597.1:n.171+4545_171+4546insCGTT
NM_001271669.2:c.117+4545_117+4546insCGTT	NP_001258598.1:n.117+4545_117+4546insCGTT
NR_036448.3:n.520+4545_520+4546insCGTT