Canonical Allele Identifier: CA2141400846

Gene: HIF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61700120_61700123delinsGCTT , CM000676.2:g.61700120_61700123delinsGCTT	GRCh38
NC_000014.8:g.62166838_62166841delinsGCTT , CM000676.1:g.62166838_62166841delinsGCTT	GRCh37
NC_000014.7:g.61236591_61236594delinsGCTT	NCBI36
NG_029606.1:g.9720_9723delinsGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.35+4281_35+4284delinsGCTT MANE Select	ENSP00000338018.4:n.35+4281_35+4284delinsGCTT
ENST00000323441.10:c.35+4281_35+4284delinsGCTT	ENSP00000323326.6:n.35+4281_35+4284delinsGCTT
ENST00000337138.8:c.35+4281_35+4284delinsGCTT	ENSP00000338018.4:n.35+4281_35+4284delinsGCTT
ENST00000394997.5:c.35+4281_35+4284delinsGCTT	ENSP00000378446.1:n.35+4281_35+4284delinsGCTT
ENST00000539097.2:c.104+2166_104+2169delinsGCTT	ENSP00000437955.1:n.104+2166_104+2169delinsGCTT
ENST00000553999.5:n.327+4281_327+4284delinsGCTT
ENST00000557206.1:n.52+1174_52+1177delinsGCTT
ENST00000557446.5:n.327+4281_327+4284delinsGCTT
ENST00000557538.5:c.-146+2166_-146+2169delinsGCTT	ENSP00000451696.1:n.-146+2166_-146+2169delinsGCTT
NM_001243084.1:c.104+2166_104+2169delinsGCTT	NP_001230013.1:n.104+2166_104+2169delinsGCTT
NM_001530.3:c.35+4281_35+4284delinsGCTT	NP_001521.1:n.35+4281_35+4284delinsGCTT
NM_181054.2:c.35+4281_35+4284delinsGCTT	NP_851397.1:n.35+4281_35+4284delinsGCTT
NM_001530.4:c.35+4281_35+4284delinsGCTT MANE Select	NP_001521.1:n.35+4281_35+4284delinsGCTT
NM_181054.3:c.35+4281_35+4284delinsGCTT	NP_851397.1:n.35+4281_35+4284delinsGCTT
NM_001243084.2:c.104+2166_104+2169delinsGCTT	NP_001230013.1:n.104+2166_104+2169delinsGCTT