Canonical Allele Identifier: CA8316376

Gene: ENO3

Linked Data

• ClinVar Variation Id: 1528598
• ClinVar RCV Id: RCV002096811
• dbSNP Id: rs754023017
• ExAC: 17:4858610 T / TG
• gnomAD v2: 17-4858610-T-TG
• gnomAD v3: 17-4955315-T-TG
• gnomAD v4: 17-4955315-T-TG
• MyVariant Identifiers: chr17:g.4858610_4858611insG (hg19) ; chr17:g.4955315_4955316insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955321dup , CM000679.2:g.4955321dup	GRCh38
NC_000017.10:g.4858616dup , CM000679.1:g.4858616dup	GRCh37
NC_000017.9:g.4799362dup	NCBI36
NG_012063.2:g.14231dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.667+24dup MANE Select	ENSP00000430055.2:n.667+24dup
ENST00000323997.10:c.667+24dup	ENSP00000324105.6:n.667+24dup
ENST00000518175.1:c.667+24dup	ENSP00000431087.1:n.667+24dup
ENST00000519584.5:c.538+24dup	ENSP00000430636.1:n.538+24dup
ENST00000519602.5:c.667+24dup	ENSP00000430055.1:n.667+24dup
ENST00000521659.5:c.*613+24dup	ENSP00000430554.1:n.*613+24dup
NM_001193503.1:c.538+24dup	NP_001180432.1:n.538+24dup
NM_001976.4:c.667+24dup	NP_001967.3:n.667+24dup
NM_053013.3:c.667+24dup	NP_443739.3:n.667+24dup
XM_005256521.2:c.694+24dup	XP_005256578.1:n.694+24dup
XM_011523729.1:c.667+24dup	XP_011522031.1:n.667+24dup
XM_017024346.2:c.667+24dup	XP_016879835.1:n.667+24dup
NM_001193503.2:c.538+24dup	NP_001180432.1:n.538+24dup
NM_001374523.1:c.667+24dup	NP_001361452.1:n.667+24dup
NM_001374524.1:c.694+24dup	NP_001361453.1:n.694+24dup
NM_001976.5:c.667+24dup	NP_001967.3:n.667+24dup
NM_053013.4:c.667+24dup MANE Select	NP_443739.3:n.667+24dup