Canonical Allele Identifier: CA2691808518

Gene: ENG

Linked Data

• gnomAD v4: 9-127829875-AGGTTGTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829876_127829883del , CM000671.2:g.127829876_127829883del	GRCh38
NC_000009.11:g.130592155_130592162del , CM000671.1:g.130592155_130592162del	GRCh37
NC_000009.10:g.129631976_129631983del	NCBI36
NG_009551.1:g.29886_29893del , LRG_589:g.29886_29893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-327-56_-327-49del	ENSP00000479015.1:n.-327-56_-327-49del
ENST00000373203.9:c.220-56_220-49del MANE Select	ENSP00000362299.4:n.220-56_220-49del
ENST00000344849.4:c.220-56_220-49del	ENSP00000341917.3:n.220-56_220-49del
ENST00000373203.8:c.220-56_220-49del	ENSP00000362299.4:n.220-56_220-49del
ENST00000480266.5:c.-327-56_-327-49del	ENSP00000479015.1:n.-327-56_-327-49del
NM_000118.3:c.220-56_220-49del , LRG_589t1:c.220-56_220-49del	NP_000109.1:n.220-56_220-49del
NM_001114753.2:c.220-56_220-49del , LRG_589t2:c.220-56_220-49del	NP_001108225.1:n.220-56_220-49del
NM_001278138.1:c.-327-56_-327-49del	NP_001265067.1:n.-327-56_-327-49del
XR_001746952.2:n.83-2522_83-2515del
NM_001114753.3:c.220-56_220-49del MANE Select	NP_001108225.1:n.220-56_220-49del
NM_001278138.2:c.-327-56_-327-49del	NP_001265067.1:n.-327-56_-327-49del