Canonical Allele Identifier: CA1612384604
Gene: DTNBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627394_15627414delinsGGAGCTGCTCTTGCAGCTCCA , CM000668.2:g.15627394_15627414delinsGGAGCTGCTCTTGCAGCTCCA GRCh38
NC_000006.11:g.15627625_15627645delinsGGAGCTGCTCTTGCAGCTCCA , CM000668.1:g.15627625_15627645delinsGGAGCTGCTCTTGCAGCTCCA GRCh37
NC_000006.10:g.15735604_15735624delinsGGAGCTGCTCTTGCAGCTCCA NCBI36
NG_009309.1:g.40627_40647delinsTGGAGCTGCAAGAGCAGCTCC , LRG_588:g.40627_40647delinsTGGAGCTGCAAGAGCAGCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.284_304delinsTGGAGCTGCAAGAGCAGCTCC MANE Select ENSP00000341680.6:p.Val95=
ENST00000338950.9:c.284_304delinsTGGAGCTGCAAGAGCAGCTCC ENSP00000344718.5:p.Val95=
ENST00000344537.9:c.284_304delinsTGGAGCTGCAAGAGCAGCTCC ENSP00000341680.5:p.Val95=
ENST00000355917.7:c.233_253delinsTGGAGCTGCAAGAGCAGCTCC ENSP00000348183.4:p.Val78=
ENST00000506844.1:c.*282_*302delinsTGGAGCTGCAAGAGCAGCTCC ENSP00000424202.1:n.*282_*302delinsTGGAGCTGCAAGAGCAGCTCC
ENST00000510395.5:c.*194_*214delinsTGGAGCTGCAAGAGCAGCTCC ENSP00000424685.1:n.*194_*214delinsTGGAGCTGCAAGAGCAGCTCC
ENST00000511762.2:c.179_199delinsTGGAGCTGCAAGAGCAGCTCC ENSP00000427473.2:p.Val60=
ENST00000513680.5:c.*282_*302delinsTGGAGCTGCAAGAGCAGCTCC ENSP00000424357.1:n.*282_*302delinsTGGAGCTGCAAGAGCAGCTCC
ENST00000515875.5:c.233_253delinsTGGAGCTGCAAGAGCAGCTCC ENSP00000425495.1:p.Val78=
ENST00000622898.4:c.179_199delinsTGGAGCTGCAAGAGCAGCTCC ENSP00000481997.1:p.Val60=
NM_001271667.1:c.41_61delinsTGGAGCTGCAAGAGCAGCTCC NP_001258596.1:p.Val14=
NM_001271668.1:c.233_253delinsTGGAGCTGCAAGAGCAGCTCC NP_001258597.1:p.Val78=
NM_001271669.1:c.179_199delinsTGGAGCTGCAAGAGCAGCTCC NP_001258598.1:p.Val60=
NM_032122.4:c.284_304delinsTGGAGCTGCAAGAGCAGCTCC , LRG_588t1:c.284_304delinsTGGAGCTGCAAGAGCAGCTCC NP_115498.2:p.Val95=
NM_183040.2:c.284_304delinsTGGAGCTGCAAGAGCAGCTCC , LRG_588t2:c.284_304delinsTGGAGCTGCAAGAGCAGCTCC NP_898861.1:p.Val95=
NR_036448.1:n.612_632delinsTGGAGCTGCAAGAGCAGCTCC
XM_005249447.3:c.245_265delinsTGGAGCTGCAAGAGCAGCTCC XP_005249504.1:p.Val82=
XM_011514936.1:c.194_214delinsTGGAGCTGCAAGAGCAGCTCC XP_011513238.1:p.Val65=
XM_005249447.4:c.245_265delinsTGGAGCTGCAAGAGCAGCTCC XP_005249504.1:p.Val82=
XM_011514936.3:c.194_214delinsTGGAGCTGCAAGAGCAGCTCC XP_011513238.1:p.Val65=
NM_032122.5:c.284_304delinsTGGAGCTGCAAGAGCAGCTCC MANE Select NP_115498.2:p.Val95=
NR_036448.2:n.582_602delinsTGGAGCTGCAAGAGCAGCTCC
NM_001271667.2:c.41_61delinsTGGAGCTGCAAGAGCAGCTCC NP_001258596.1:p.Val14=
NM_001271668.2:c.233_253delinsTGGAGCTGCAAGAGCAGCTCC NP_001258597.1:p.Val78=
NM_001271669.2:c.179_199delinsTGGAGCTGCAAGAGCAGCTCC NP_001258598.1:p.Val60=
NR_036448.3:n.582_602delinsTGGAGCTGCAAGAGCAGCTCC