Canonical Allele Identifier: CA349279375
Community Standard Title: NM_025000.4(DCAF17):c.1267-2A>C
Gene: DCAF17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171480036A>C , CM000664.2:g.171480036A>C GRCh38
NC_000002.11:g.172336546A>C , CM000664.1:g.172336546A>C GRCh37
NC_000002.10:g.172044792A>C NCBI36
NG_013038.1:g.50786A>C
NG_013038.2:g.50786A>C

Transcript Alleles

HGVS Amino-acid Change
NM_025000.4:c.1267-2A>C MANE Select NP_079276.2:n.1267-2A>C
ENST00000375255.8:c.1267-2A>C MANE Select ENSP00000364404.3:n.1267-2A>C
NM_001164821.1:c.1066-2A>C NP_001158293.1:n.1066-2A>C
NM_001164821.2:c.1066-2A>C NP_001158293.1:n.1066-2A>C
NM_025000.3:c.1267-2A>C NP_079276.2:n.1267-2A>C
NR_028482.1:n.1488-2A>C
NR_028482.2:n.1513-2A>C
ENST00000339506.7:c.519-2A>C
ENST00000375255.7:c.1267-2A>C ENSP00000364404.3:n.1267-2A>C
ENST00000431110.1:c.372-2A>C
ENST00000468592.5:n.1089-2A>C
ENST00000498486.1:n.381A>C
ENST00000539783.5:c.1066-2A>C ENSP00000442238.1:n.1066-2A>C
ENST00000611110.4:c.427-2A>C ENSP00000477604.1:n.427-2A>C
XM_006712766.2:c.1183-2A>C XP_006712829.1:n.1183-2A>C
XM_006712767.1:c.1006-2A>C XP_006712830.1:n.1006-2A>C
XM_006712768.1:c.1006-2A>C XP_006712831.1:n.1006-2A>C
XM_006712773.2:c.589-2A>C XP_006712836.1:n.589-2A>C
XM_011511881.1:c.1234-2A>C XP_011510183.1:n.1234-2A>C
XM_011511882.1:c.1204-2A>C XP_011510184.1:n.1204-2A>C
XM_011511883.1:c.982-10712A>C XP_011510185.1:n.982-10712A>C
XM_011511884.1:c.*15-10712A>C XP_011510186.1:n.*15-10712A>C
XM_017004995.1:c.1091+6061A>C XP_016860484.1:n.1091+6061A>C
XM_017004998.1:c.589-2A>C XP_016860487.1:n.589-2A>C
XM_017005002.1:c.526-2A>C XP_016860491.1:n.526-2A>C
XR_001738961.1:n.1282-2A>C
XR_923030.1:n.1395-2A>C