Canonical Allele Identifier: CA980979717

Gene: ENO3

Linked Data

• dbSNP Id: rs1971686963
• gnomAD v3: 17-4955305-C-CTTTTTTTAA
• gnomAD v4: 17-4955305-C-CTTTTTTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955306_4955307insTTTTTTAAT , CM000679.2:g.4955306_4955307insTTTTTTAAT	GRCh38
NC_000017.10:g.4858601_4858602insTTTTTTAAT , CM000679.1:g.4858601_4858602insTTTTTTAAT	GRCh37
NC_000017.9:g.4799347_4799348insTTTTTTAAT	NCBI36
NG_012063.2:g.14216_14217insTTTTTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.667+9_667+10insTTTTTTAAT MANE Select	ENSP00000430055.2:n.667+9_667+10insTTTTTTAAT
ENST00000323997.10:c.667+9_667+10insTTTTTTAAT	ENSP00000324105.6:n.667+9_667+10insTTTTTTAAT
ENST00000518175.1:c.667+9_667+10insTTTTTTAAT	ENSP00000431087.1:n.667+9_667+10insTTTTTTAAT
ENST00000519584.5:c.538+9_538+10insTTTTTTAAT	ENSP00000430636.1:n.538+9_538+10insTTTTTTAAT
ENST00000519602.5:c.667+9_667+10insTTTTTTAAT	ENSP00000430055.1:n.667+9_667+10insTTTTTTAAT
ENST00000521659.5:c.*613+9_*613+10insTTTTTTAAT	ENSP00000430554.1:n.*613+9_*613+10insTTTTTTAAT
NM_001193503.1:c.538+9_538+10insTTTTTTAAT	NP_001180432.1:n.538+9_538+10insTTTTTTAAT
NM_001976.4:c.667+9_667+10insTTTTTTAAT	NP_001967.3:n.667+9_667+10insTTTTTTAAT
NM_053013.3:c.667+9_667+10insTTTTTTAAT	NP_443739.3:n.667+9_667+10insTTTTTTAAT
XM_005256521.2:c.694+9_694+10insTTTTTTAAT	XP_005256578.1:n.694+9_694+10insTTTTTTAAT
XM_011523729.1:c.667+9_667+10insTTTTTTAAT	XP_011522031.1:n.667+9_667+10insTTTTTTAAT
XM_017024346.2:c.667+9_667+10insTTTTTTAAT	XP_016879835.1:n.667+9_667+10insTTTTTTAAT
NM_001193503.2:c.538+9_538+10insTTTTTTAAT	NP_001180432.1:n.538+9_538+10insTTTTTTAAT
NM_001374523.1:c.667+9_667+10insTTTTTTAAT	NP_001361452.1:n.667+9_667+10insTTTTTTAAT
NM_001374524.1:c.694+9_694+10insTTTTTTAAT	NP_001361453.1:n.694+9_694+10insTTTTTTAAT
NM_001976.5:c.667+9_667+10insTTTTTTAAT	NP_001967.3:n.667+9_667+10insTTTTTTAAT
NM_053013.4:c.667+9_667+10insTTTTTTAAT MANE Select	NP_443739.3:n.667+9_667+10insTTTTTTAAT