Canonical Allele Identifier: CA324999

Gene: ENG

Linked Data

• ClinVar Variation Id: 213214
• ClinVar RCV Id: RCV000200429 ; RCV000234034
• dbSNP Id: rs863223540
• gnomAD v4: 9-127824354-TTGTC-T
• MyVariant Identifiers: chr9:g.130586634_130586637del (hg19) ; chr9:g.127824355_127824358del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824357_127824360del , CM000671.2:g.127824357_127824360del	GRCh38
NC_000009.11:g.130586636_130586639del , CM000671.1:g.130586636_130586639del	GRCh37
NC_000009.10:g.129626457_129626460del	NCBI36
NG_009551.1:g.35411_35414del , LRG_589:g.35411_35414del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.534_537del	ENSP00000479015.1:p.Thr179SerfsTer7
ENST00000373203.9:c.1080_1083del MANE Select	ENSP00000362299.4:p.Thr361SerfsTer7
ENST00000344849.4:c.1080_1083del	ENSP00000341917.3:p.Thr361SerfsTer7
ENST00000373203.8:c.1080_1083del	ENSP00000362299.4:p.Thr361SerfsTer7
ENST00000480266.5:c.534_537del	ENSP00000479015.1:p.Thr179SerfsTer7
ENST00000486329.1:n.48_51del
NM_000118.3:c.1080_1083del , LRG_589t1:c.1080_1083del	NP_000109.1:p.Thr361SerfsTer7
NM_001114753.2:c.1080_1083del , LRG_589t2:c.1080_1083del	NP_001108225.1:p.Thr361SerfsTer7
NM_001278138.1:c.534_537del	NP_001265067.1:p.Thr179SerfsTer7
NM_001114753.3:c.1080_1083del MANE Select	NP_001108225.1:p.Thr361SerfsTer7
NM_001278138.2:c.534_537del	NP_001265067.1:p.Thr179SerfsTer7