Canonical Allele Identifier: CA5253005

Gene: ENG

Linked Data

• dbSNP Id: rs765377503
• ExAC: 9:130587611 C / CCACCTT
• gnomAD v2: 9-130587611-C-CCACCTT
• gnomAD v4: 9-127825332-C-CCACCTT
• MyVariant Identifiers: chr9:g.130587611_130587612insCACCTT (hg19) ; chr9:g.127825332_127825333insCACCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825337_127825342dup , CM000671.2:g.127825337_127825342dup	GRCh38
NC_000009.11:g.130587616_130587621dup , CM000671.1:g.130587616_130587621dup	GRCh37
NC_000009.10:g.129627437_129627442dup	NCBI36
NG_009551.1:g.34431_34436dup , LRG_589:g.34431_34436dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.163_168dup	ENSP00000479015.1:p.Val56_Glu57insLysVal
ENST00000373203.9:c.709_714dup MANE Select	ENSP00000362299.4:p.Val238_Glu239insLysVal
ENST00000344849.4:c.709_714dup	ENSP00000341917.3:p.Val238_Glu239insLysVal
ENST00000373203.8:c.709_714dup	ENSP00000362299.4:p.Val238_Glu239insLysVal
ENST00000480266.5:c.163_168dup	ENSP00000479015.1:p.Val56_Glu57insLysVal
NM_000118.3:c.709_714dup , LRG_589t1:c.709_714dup	NP_000109.1:p.Val238_Glu239insLysVal
NM_001114753.2:c.709_714dup , LRG_589t2:c.709_714dup	NP_001108225.1:p.Val238_Glu239insLysVal
NM_001278138.1:c.163_168dup	NP_001265067.1:p.Val56_Glu57insLysVal
NM_001114753.3:c.709_714dup MANE Select	NP_001108225.1:p.Val238_Glu239insLysVal
NM_001278138.2:c.163_168dup	NP_001265067.1:p.Val56_Glu57insLysVal