Canonical Allele Identifier: CA349278952
Community Standard Title: NM_025000.4(DCAF17):c.1091+2T>C
Gene: DCAF17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171473977T>C , CM000664.2:g.171473977T>C GRCh38
NC_000002.11:g.172330487T>C , CM000664.1:g.172330487T>C GRCh37
NC_000002.10:g.172038733T>C NCBI36
NG_013038.1:g.44727T>C
NG_013038.2:g.44727T>C

Transcript Alleles

HGVS Amino-acid Change
NM_025000.4:c.1091+2T>C MANE Select NP_079276.2:n.1091+2T>C
ENST00000375255.8:c.1091+2T>C MANE Select ENSP00000364404.3:n.1091+2T>C
NM_001164821.1:c.982-4010T>C NP_001158293.1:n.982-4010T>C
NM_001164821.2:c.982-4010T>C NP_001158293.1:n.982-4010T>C
NM_025000.3:c.1091+2T>C NP_079276.2:n.1091+2T>C
NR_028482.1:n.1312+2T>C
NR_028482.2:n.1337+2T>C
ENST00000339506.7:c.343+2T>C
ENST00000375255.7:c.1091+2T>C ENSP00000364404.3:n.1091+2T>C
ENST00000431110.1:c.196+2T>C
ENST00000468592.5:n.913+2T>C
ENST00000493106.1:n.166T>C
ENST00000539783.5:c.982-4010T>C ENSP00000442238.1:n.982-4010T>C
ENST00000611110.4:c.251+2T>C ENSP00000477604.1:n.251+2T>C
XM_006712766.2:c.1091+2T>C XP_006712829.1:n.1091+2T>C
XM_006712767.1:c.830+2T>C XP_006712830.1:n.830+2T>C
XM_006712768.1:c.830+2T>C XP_006712831.1:n.830+2T>C
XM_006712772.2:c.*15-4010T>C XP_006712835.1:n.*15-4010T>C
XM_006712773.2:c.413+2T>C XP_006712836.1:n.413+2T>C
XM_011511881.1:c.1058+2T>C XP_011510183.1:n.1058+2T>C
XM_011511882.1:c.1028+2T>C XP_011510184.1:n.1028+2T>C
XM_011511883.1:c.981+4947T>C XP_011510185.1:n.981+4947T>C
XM_011511884.1:c.*14+4947T>C XP_011510186.1:n.*14+4947T>C
XM_017004995.1:c.1091+2T>C XP_016860484.1:n.1091+2T>C
XM_017004997.1:c.982-2883T>C XP_016860486.1:n.982-2883T>C
XM_017004998.1:c.413+2T>C XP_016860487.1:n.413+2T>C
XM_017004999.1:c.*15-2883T>C XP_016860488.1:n.*15-2883T>C
XM_017005000.1:c.*126T>C XP_016860489.1:n.*126T>C
XM_017005002.1:c.350+2T>C XP_016860491.1:n.350+2T>C
XR_001738961.1:n.1198-4010T>C
XR_427113.2:n.1198-2883T>C
XR_923029.1:n.1304-2883T>C
XR_923030.1:n.1304-2883T>C