Canonical Allele Identifier: CA5252650

Gene: ENG

Linked Data

• dbSNP Id: rs772588778
• ExAC: 9:130578365 T / TCTGCCC
• gnomAD v2: 9-130578365-T-TCTGCCC
• gnomAD v3: 9-127816086-T-TCTGCCC
• gnomAD v4: 9-127816086-T-TCTGCCC
• MyVariant Identifiers: chr9:g.130578365_130578366insCTGCCC (hg19) ; chr9:g.127816086_127816087insCTGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816094_127816099dup , CM000671.2:g.127816094_127816099dup	GRCh38
NC_000009.11:g.130578373_130578378dup , CM000671.1:g.130578373_130578378dup	GRCh37
NC_000009.10:g.129618194_129618199dup	NCBI36
NG_009551.1:g.43677_43682dup , LRG_589:g.43677_43682dup
NG_023245.1:g.18220_18225dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1196-39_1196-34dup	ENSP00000479015.1:n.1196-39_1196-34dup
ENST00000373203.9:c.1742-39_1742-34dup MANE Select	ENSP00000362299.4:n.1742-39_1742-34dup
ENST00000344849.4:c.1742-39_1742-34dup	ENSP00000341917.3:n.1742-39_1742-34dup
ENST00000373203.8:c.1742-39_1742-34dup	ENSP00000362299.4:n.1742-39_1742-34dup
ENST00000480266.5:c.1196-39_1196-34dup	ENSP00000479015.1:n.1196-39_1196-34dup
NM_000118.3:c.1742-39_1742-34dup , LRG_589t1:c.1742-39_1742-34dup	NP_000109.1:n.1742-39_1742-34dup
NM_001114753.2:c.1742-39_1742-34dup , LRG_589t2:c.1742-39_1742-34dup	NP_001108225.1:n.1742-39_1742-34dup
NM_001278138.1:c.1196-39_1196-34dup	NP_001265067.1:n.1196-39_1196-34dup
XM_011519273.1:c.-485_-480dup	XP_011517575.1:n.-485_-480dup
NR_136302.1:n.29_34dup
NM_001114753.3:c.1742-39_1742-34dup MANE Select	NP_001108225.1:n.1742-39_1742-34dup
NM_001278138.2:c.1196-39_1196-34dup	NP_001265067.1:n.1196-39_1196-34dup