Canonical Allele Identifier: CA1129279925

Gene: ENG

Linked Data

• dbSNP Id: rs1830586992
• gnomAD v3: 9-127825419-TG-T
• gnomAD v4: 9-127825419-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825421del , CM000671.2:g.127825421del	GRCh38
NC_000009.11:g.130587700del , CM000671.1:g.130587700del	GRCh37
NC_000009.10:g.129627521del	NCBI36
NG_009551.1:g.34349del , LRG_589:g.34349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.144-63del	ENSP00000479015.1:n.144-63del
ENST00000373203.9:c.690-63del MANE Select	ENSP00000362299.4:n.690-63del
ENST00000344849.4:c.690-63del	ENSP00000341917.3:n.690-63del
ENST00000373203.8:c.690-63del	ENSP00000362299.4:n.690-63del
ENST00000480266.5:c.144-63del	ENSP00000479015.1:n.144-63del
NM_000118.3:c.690-63del , LRG_589t1:c.690-63del	NP_000109.1:n.690-63del
NM_001114753.2:c.690-63del , LRG_589t2:c.690-63del	NP_001108225.1:n.690-63del
NM_001278138.1:c.144-63del	NP_001265067.1:n.144-63del
XR_001746952.2:n.45del
NM_001114753.3:c.690-63del MANE Select	NP_001108225.1:n.690-63del
NM_001278138.2:c.144-63del	NP_001265067.1:n.144-63del