Canonical Allele Identifier: CA2579461275

Gene: ENG

Linked Data

• gnomAD v4: 9-127816095-GCCCCAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816100_127816105del , CM000671.2:g.127816100_127816105del	GRCh38
NC_000009.11:g.130578379_130578384del , CM000671.1:g.130578379_130578384del	GRCh37
NC_000009.10:g.129618200_129618205del	NCBI36
NG_009551.1:g.43668_43673del , LRG_589:g.43668_43673del
NG_023245.1:g.18226_18231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1196-48_1196-43del	ENSP00000479015.1:n.1196-48_1196-43del
ENST00000373203.9:c.1742-48_1742-43del MANE Select	ENSP00000362299.4:n.1742-48_1742-43del
ENST00000344849.4:c.1742-48_1742-43del	ENSP00000341917.3:n.1742-48_1742-43del
ENST00000373203.8:c.1742-48_1742-43del	ENSP00000362299.4:n.1742-48_1742-43del
ENST00000480266.5:c.1196-48_1196-43del	ENSP00000479015.1:n.1196-48_1196-43del
NM_000118.3:c.1742-48_1742-43del , LRG_589t1:c.1742-48_1742-43del	NP_000109.1:n.1742-48_1742-43del
NM_001114753.2:c.1742-48_1742-43del , LRG_589t2:c.1742-48_1742-43del	NP_001108225.1:n.1742-48_1742-43del
NM_001278138.1:c.1196-48_1196-43del	NP_001265067.1:n.1196-48_1196-43del
XM_011519273.1:c.-479_-474del	XP_011517575.1:n.-479_-474del
NR_136302.1:n.35_40del
NM_001114753.3:c.1742-48_1742-43del MANE Select	NP_001108225.1:n.1742-48_1742-43del
NM_001278138.2:c.1196-48_1196-43del	NP_001265067.1:n.1196-48_1196-43del