Canonical Allele Identifier: CA2141400739

Gene: HIF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61699939_61699951delinsATTAACTGTTTTG , CM000676.2:g.61699939_61699951delinsATTAACTGTTTTG	GRCh38
NC_000014.8:g.62166657_62166669delinsATTAACTGTTTTG , CM000676.1:g.62166657_62166669delinsATTAACTGTTTTG	GRCh37
NC_000014.7:g.61236410_61236422delinsATTAACTGTTTTG	NCBI36
NG_029606.1:g.9539_9551delinsATTAACTGTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.35+4100_35+4112delinsATTAACTGTTTTG MANE Select	ENSP00000338018.4:n.35+4100_35+4112delinsATTAACTGTTTTG
ENST00000323441.10:c.35+4100_35+4112delinsATTAACTGTTTTG	ENSP00000323326.6:n.35+4100_35+4112delinsATTAACTGTTTTG
ENST00000337138.8:c.35+4100_35+4112delinsATTAACTGTTTTG	ENSP00000338018.4:n.35+4100_35+4112delinsATTAACTGTTTTG
ENST00000394997.5:c.35+4100_35+4112delinsATTAACTGTTTTG	ENSP00000378446.1:n.35+4100_35+4112delinsATTAACTGTTTTG
ENST00000539097.2:c.104+1985_104+1997delinsATTAACTGTTTTG	ENSP00000437955.1:n.104+1985_104+1997delinsATTAACTGTTTTG
ENST00000553999.5:n.327+4100_327+4112delinsATTAACTGTTTTG
ENST00000557206.1:n.52+993_52+1005delinsATTAACTGTTTTG
ENST00000557446.5:n.327+4100_327+4112delinsATTAACTGTTTTG
ENST00000557538.5:c.-146+1985_-146+1997delinsATTAACTGTTTTG	ENSP00000451696.1:n.-146+1985_-146+1997delinsATTAACTGTTTTG
NM_001243084.1:c.104+1985_104+1997delinsATTAACTGTTTTG	NP_001230013.1:n.104+1985_104+1997delinsATTAACTGTTTTG
NM_001530.3:c.35+4100_35+4112delinsATTAACTGTTTTG	NP_001521.1:n.35+4100_35+4112delinsATTAACTGTTTTG
NM_181054.2:c.35+4100_35+4112delinsATTAACTGTTTTG	NP_851397.1:n.35+4100_35+4112delinsATTAACTGTTTTG
NM_001530.4:c.35+4100_35+4112delinsATTAACTGTTTTG MANE Select	NP_001521.1:n.35+4100_35+4112delinsATTAACTGTTTTG
NM_181054.3:c.35+4100_35+4112delinsATTAACTGTTTTG	NP_851397.1:n.35+4100_35+4112delinsATTAACTGTTTTG
NM_001243084.2:c.104+1985_104+1997delinsATTAACTGTTTTG	NP_001230013.1:n.104+1985_104+1997delinsATTAACTGTTTTG