Canonical Allele Identifier: CA5253019

Gene: ENG

Linked Data

• dbSNP Id: rs752983157
• ExAC: 9:130587649 AGACGCGGAT / A
• gnomAD v2: 9-130587649-AGACGCGGAT-A
• gnomAD v4: 9-127825370-AGACGCGGAT-A
• MyVariant Identifiers: chr9:g.130587650_130587658del (hg19) ; chr9:g.127825371_127825379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825372_127825380del , CM000671.2:g.127825372_127825380del	GRCh38
NC_000009.11:g.130587651_130587659del , CM000671.1:g.130587651_130587659del	GRCh37
NC_000009.10:g.129627472_129627480del	NCBI36
NG_009551.1:g.34390_34398del , LRG_589:g.34390_34398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.144-22_144-14del	ENSP00000479015.1:n.144-22_144-14del
ENST00000373203.9:c.690-22_690-14del MANE Select	ENSP00000362299.4:n.690-22_690-14del
ENST00000344849.4:c.690-22_690-14del	ENSP00000341917.3:n.690-22_690-14del
ENST00000373203.8:c.690-22_690-14del	ENSP00000362299.4:n.690-22_690-14del
ENST00000480266.5:c.144-22_144-14del	ENSP00000479015.1:n.144-22_144-14del
NM_000118.3:c.690-22_690-14del , LRG_589t1:c.690-22_690-14del	NP_000109.1:n.690-22_690-14del
NM_001114753.2:c.690-22_690-14del , LRG_589t2:c.690-22_690-14del	NP_001108225.1:n.690-22_690-14del
NM_001278138.1:c.144-22_144-14del	NP_001265067.1:n.144-22_144-14del
NM_001114753.3:c.690-22_690-14del MANE Select	NP_001108225.1:n.690-22_690-14del
NM_001278138.2:c.144-22_144-14del	NP_001265067.1:n.144-22_144-14del