Canonical Allele Identifier: CA1584518749
Gene: TIFAB HGNC NCBI
DCANP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135445341_135445364delinsCGCTGCCCCAGCCAGAGGGTCTGT , CM000667.2:g.135445341_135445364delinsCGCTGCCCCAGCCAGAGGGTCTGT GRCh38
NC_000005.9:g.134781031_134781054delinsCGCTGCCCCAGCCAGAGGGTCTGT , CM000667.1:g.134781031_134781054delinsCGCTGCCCCAGCCAGAGGGTCTGT GRCh37
NC_000005.8:g.134808930_134808953delinsCGCTGCCCCAGCCAGAGGGTCTGT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537858.2:c.*4090_*4113delinsACAGACCCTCTGGCTGGGGCAGCG (TIFAB) MANE Select ENSP00000440509.1:n.*4090_*4113delinsACAGACCCTCTGGCTGGGGCAGCG...
ENST00000503143.3:c.*1010_*1033delinsACAGACCCTCTGGCTGGGGCAGCG (DCANP1) MANE Select ENSP00000421871.1:n.*1010_*1033delinsACAGACCCTCTGGCTGGGGCAGCG...
ENST00000537858.1:c.*4090_*4113delinsACAGACCCTCTGGCTGGGGCAGCG (TIFAB) ENSP00000440509.1:n.*4090_*4113delinsACAGACCCTCTGGCTGGGGCAGCG...
NM_130848.2:c.*1010_*1033delinsACAGACCCTCTGGCTGGGGCAGCG (DCANP1) NP_570900.1:n.*1010_*1033delinsACAGACCCTCTGGCTGGGGCAGCG
NM_001099221.2:c.*4090_*4113delinsACAGACCCTCTGGCTGGGGCAGCG (TIFAB) MANE Select NP_001092691.1:n.*4090_*4113delinsACAGACCCTCTGGCTGGGGCAGCG
NM_130848.3:c.*1010_*1033delinsACAGACCCTCTGGCTGGGGCAGCG (DCANP1) MANE Select NP_570900.1:n.*1010_*1033delinsACAGACCCTCTGGCTGGGGCAGCG