Canonical Allele Identifier: CA2500853460

Gene: HIF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61700015_61700016insCTCAGGA , CM000676.2:g.61700015_61700016insCTCAGGA	GRCh38
NC_000014.8:g.62166733_62166734insCTCAGGA , CM000676.1:g.62166733_62166734insCTCAGGA	GRCh37
NC_000014.7:g.61236486_61236487insCTCAGGA	NCBI36
NG_029606.1:g.9615_9616insCTCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.35+4176_35+4177insCTCAGGA MANE Select	ENSP00000338018.4:n.35+4176_35+4177insCTCAGGA
ENST00000323441.10:c.35+4176_35+4177insCTCAGGA	ENSP00000323326.6:n.35+4176_35+4177insCTCAGGA
ENST00000337138.8:c.35+4176_35+4177insCTCAGGA	ENSP00000338018.4:n.35+4176_35+4177insCTCAGGA
ENST00000394997.5:c.35+4176_35+4177insCTCAGGA	ENSP00000378446.1:n.35+4176_35+4177insCTCAGGA
ENST00000539097.2:c.104+2061_104+2062insCTCAGGA	ENSP00000437955.1:n.104+2061_104+2062insCTCAGGA
ENST00000553999.5:n.327+4176_327+4177insCTCAGGA
ENST00000557206.1:n.52+1069_52+1070insCTCAGGA
ENST00000557446.5:n.327+4176_327+4177insCTCAGGA
ENST00000557538.5:c.-146+2061_-146+2062insCTCAGGA	ENSP00000451696.1:n.-146+2061_-146+2062insCTCAGGA
NM_001243084.1:c.104+2061_104+2062insCTCAGGA	NP_001230013.1:n.104+2061_104+2062insCTCAGGA
NM_001530.3:c.35+4176_35+4177insCTCAGGA	NP_001521.1:n.35+4176_35+4177insCTCAGGA
NM_181054.2:c.35+4176_35+4177insCTCAGGA	NP_851397.1:n.35+4176_35+4177insCTCAGGA
NM_001530.4:c.35+4176_35+4177insCTCAGGA MANE Select	NP_001521.1:n.35+4176_35+4177insCTCAGGA
NM_181054.3:c.35+4176_35+4177insCTCAGGA	NP_851397.1:n.35+4176_35+4177insCTCAGGA
NM_001243084.2:c.104+2061_104+2062insCTCAGGA	NP_001230013.1:n.104+2061_104+2062insCTCAGGA