Canonical Allele Identifier: CA2677408293

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15627587-G-GGGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627587_15627588insGGGTT , CM000668.2:g.15627587_15627588insGGGTT	GRCh38
NC_000006.11:g.15627818_15627819insGGGTT , CM000668.1:g.15627818_15627819insGGGTT	GRCh37
NC_000006.10:g.15735797_15735798insGGGTT	NCBI36
NG_009309.1:g.40453_40454insAACCC , LRG_588:g.40453_40454insAACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.223-113_223-112insAACCC MANE Select	ENSP00000341680.6:n.223-113_223-112insAACCC
ENST00000338950.9:c.223-113_223-112insAACCC	ENSP00000344718.5:n.223-113_223-112insAACCC
ENST00000344537.9:c.223-113_223-112insAACCC	ENSP00000341680.5:n.223-113_223-112insAACCC
ENST00000355917.7:c.172-113_172-112insAACCC	ENSP00000348183.4:n.172-113_172-112insAACCC
ENST00000506844.1:c.*221-113_*221-112insAACCC	ENSP00000424202.1:n.*221-113_*221-112insAACCC
ENST00000510395.5:c.*133-113_*133-112insAACCC	ENSP00000424685.1:n.*133-113_*133-112insAACCC
ENST00000511762.2:c.118-113_118-112insAACCC	ENSP00000427473.2:n.118-113_118-112insAACCC
ENST00000513680.5:c.*221-113_*221-112insAACCC	ENSP00000424357.1:n.*221-113_*221-112insAACCC
ENST00000515875.5:c.172-113_172-112insAACCC	ENSP00000425495.1:n.172-113_172-112insAACCC
ENST00000622898.4:c.118-113_118-112insAACCC	ENSP00000481997.1:n.118-113_118-112insAACCC
NM_001271667.1:c.-21-113_-21-112insAACCC	NP_001258596.1:n.-21-113_-21-112insAACCC
NM_001271668.1:c.172-113_172-112insAACCC	NP_001258597.1:n.172-113_172-112insAACCC
NM_001271669.1:c.118-113_118-112insAACCC	NP_001258598.1:n.118-113_118-112insAACCC
NM_032122.4:c.223-113_223-112insAACCC , LRG_588t1:c.223-113_223-112insAACCC	NP_115498.2:n.223-113_223-112insAACCC
NM_183040.2:c.223-113_223-112insAACCC , LRG_588t2:c.223-113_223-112insAACCC	NP_898861.1:n.223-113_223-112insAACCC
NR_036448.1:n.551-113_551-112insAACCC
XM_005249447.3:c.184-113_184-112insAACCC	XP_005249504.1:n.184-113_184-112insAACCC
XM_011514936.1:c.133-113_133-112insAACCC	XP_011513238.1:n.133-113_133-112insAACCC
XM_005249447.4:c.184-113_184-112insAACCC	XP_005249504.1:n.184-113_184-112insAACCC
XM_011514936.3:c.133-113_133-112insAACCC	XP_011513238.1:n.133-113_133-112insAACCC
NM_032122.5:c.223-113_223-112insAACCC MANE Select	NP_115498.2:n.223-113_223-112insAACCC
NR_036448.2:n.521-113_521-112insAACCC
NM_001271667.2:c.-21-113_-21-112insAACCC	NP_001258596.1:n.-21-113_-21-112insAACCC
NM_001271668.2:c.172-113_172-112insAACCC	NP_001258597.1:n.172-113_172-112insAACCC
NM_001271669.2:c.118-113_118-112insAACCC	NP_001258598.1:n.118-113_118-112insAACCC
NR_036448.3:n.521-113_521-112insAACCC