Canonical Allele Identifier: CA2691808470

Gene: ENG

Linked Data

• gnomAD v4: 9-127824763-GGGGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824773_127824777del , CM000671.2:g.127824773_127824777del	GRCh38
NC_000009.11:g.130587052_130587056del , CM000671.1:g.130587052_130587056del	GRCh37
NC_000009.10:g.129626873_129626877del	NCBI36
NG_009551.1:g.35001_35005del , LRG_589:g.35001_35005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.445+32_445+36del	ENSP00000479015.1:n.445+32_445+36del
ENST00000373203.9:c.991+32_991+36del MANE Select	ENSP00000362299.4:n.991+32_991+36del
ENST00000344849.4:c.991+32_991+36del	ENSP00000341917.3:n.991+32_991+36del
ENST00000373203.8:c.991+32_991+36del	ENSP00000362299.4:n.991+32_991+36del
ENST00000480266.5:c.445+32_445+36del	ENSP00000479015.1:n.445+32_445+36del
NM_000118.3:c.991+32_991+36del , LRG_589t1:c.991+32_991+36del	NP_000109.1:n.991+32_991+36del
NM_001114753.2:c.991+32_991+36del , LRG_589t2:c.991+32_991+36del	NP_001108225.1:n.991+32_991+36del
NM_001278138.1:c.445+32_445+36del	NP_001265067.1:n.445+32_445+36del
NM_001114753.3:c.991+32_991+36del MANE Select	NP_001108225.1:n.991+32_991+36del
NM_001278138.2:c.445+32_445+36del	NP_001265067.1:n.445+32_445+36del