Canonical Allele Identifier: CA2141400832
Gene: HIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.61700096_61700099delinsAAAC , CM000676.2:g.61700096_61700099delinsAAAC GRCh38
NC_000014.8:g.62166814_62166817delinsAAAC , CM000676.1:g.62166814_62166817delinsAAAC GRCh37
NC_000014.7:g.61236567_61236570delinsAAAC NCBI36
NG_029606.1:g.9696_9699delinsAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000337138.9:c.35+4257_35+4260delinsAAAC MANE Select ENSP00000338018.4:n.35+4257_35+4260delinsAAAC
ENST00000323441.10:c.35+4257_35+4260delinsAAAC ENSP00000323326.6:n.35+4257_35+4260delinsAAAC
ENST00000337138.8:c.35+4257_35+4260delinsAAAC ENSP00000338018.4:n.35+4257_35+4260delinsAAAC
ENST00000394997.5:c.35+4257_35+4260delinsAAAC ENSP00000378446.1:n.35+4257_35+4260delinsAAAC
ENST00000539097.2:c.104+2142_104+2145delinsAAAC ENSP00000437955.1:n.104+2142_104+2145delinsAAAC
ENST00000553999.5:n.327+4257_327+4260delinsAAAC
ENST00000557206.1:n.52+1150_52+1153delinsAAAC
ENST00000557446.5:n.327+4257_327+4260delinsAAAC
ENST00000557538.5:c.-146+2142_-146+2145delinsAAAC ENSP00000451696.1:n.-146+2142_-146+2145delinsAAAC
NM_001243084.1:c.104+2142_104+2145delinsAAAC NP_001230013.1:n.104+2142_104+2145delinsAAAC
NM_001530.3:c.35+4257_35+4260delinsAAAC NP_001521.1:n.35+4257_35+4260delinsAAAC
NM_181054.2:c.35+4257_35+4260delinsAAAC NP_851397.1:n.35+4257_35+4260delinsAAAC
NM_001530.4:c.35+4257_35+4260delinsAAAC MANE Select NP_001521.1:n.35+4257_35+4260delinsAAAC
NM_181054.3:c.35+4257_35+4260delinsAAAC NP_851397.1:n.35+4257_35+4260delinsAAAC
NM_001243084.2:c.104+2142_104+2145delinsAAAC NP_001230013.1:n.104+2142_104+2145delinsAAAC