Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61730580_61730581insTTTTTTTTTT , CM000676.2:g.61730580_61730581insTTTTTTTTTT	GRCh38
NC_000014.8:g.62197298_62197299insTTTTTTTTTT , CM000676.1:g.62197298_62197299insTTTTTTTTTT	GRCh37
NC_000014.7:g.61267051_61267052insTTTTTTTTTT	NCBI36
NG_029606.1:g.40180_40181insTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.774-1838_774-1837insTTTTTTTTTT (HIF1A) MANE Select	ENSP00000338018.4:n.774-1838_774-1837insTTTTTTTTTT
ENST00000323441.10:c.774-1838_774-1837insTTTTTTTTTT (HIF1A)	ENSP00000323326.6:n.774-1838_774-1837insTTTTTTTTTT
ENST00000337138.8:c.774-1838_774-1837insTTTTTTTTTT (HIF1A)	ENSP00000338018.4:n.774-1838_774-1837insTTTTTTTTTT
ENST00000394997.5:c.777-1838_777-1837insTTTTTTTTTT (HIF1A)	ENSP00000378446.1:n.777-1838_777-1837insTTTTTTTTTT
ENST00000539097.2:c.846-1838_846-1837insTTTTTTTTTT (HIF1A)	ENSP00000437955.1:n.846-1838_846-1837insTTTTTTTTTT
ENST00000557538.5:c.597-1838_597-1837insTTTTTTTTTT (HIF1A)	ENSP00000451696.1:n.597-1838_597-1837insTTTTTTTTTT
NM_001243084.1:c.846-1838_846-1837insTTTTTTTTTT (HIF1A)	NP_001230013.1:n.846-1838_846-1837insTTTTTTTTTT
NM_001530.3:c.774-1838_774-1837insTTTTTTTTTT (HIF1A)	NP_001521.1:n.774-1838_774-1837insTTTTTTTTTT
NM_181054.2:c.774-1838_774-1837insTTTTTTTTTT (HIF1A)	NP_851397.1:n.774-1838_774-1837insTTTTTTTTTT
XR_943925.1:n.214-13564_214-13563insAAAAAAAAAA (HIF1A-AS3)
XR_943926.1:n.214-13564_214-13563insAAAAAAAAAA (HIF1A-AS3)
XR_943927.1:n.214-13564_214-13563insAAAAAAAAAA (HIF1A-AS3)
XR_943928.1:n.214-13564_214-13563insAAAAAAAAAA (HIF1A-AS3)
XR_943929.1:n.214-13564_214-13563insAAAAAAAAAA (HIF1A-AS3)
NR_144368.1:n.214-13564_214-13563insAAAAAAAAAA (HIF1A-AS3)
NM_001530.4:c.774-1838_774-1837insTTTTTTTTTT (HIF1A) MANE Select	NP_001521.1:n.774-1838_774-1837insTTTTTTTTTT
NM_181054.3:c.774-1838_774-1837insTTTTTTTTTT (HIF1A)	NP_851397.1:n.774-1838_774-1837insTTTTTTTTTT
NM_001243084.2:c.846-1838_846-1837insTTTTTTTTTT (HIF1A)	NP_001230013.1:n.846-1838_846-1837insTTTTTTTTTT