Canonical Allele Identifier: CA590939409

Gene: ENG

Linked Data

• dbSNP Id: rs1156521901
• gnomAD v2: 9-130586687-TGGTCTGGATCGGTGCGGGTGA-T
• gnomAD v3: 9-127824408-TGGTCTGGATCGGTGCGGGTGA-T
• gnomAD v4: 9-127824408-TGGTCTGGATCGGTGCGGGTGA-T
• MyVariant Identifiers: chr9:g.130586688_130586708del (hg19) ; chr9:g.127824409_127824429del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824415_127824435del , CM000671.2:g.127824415_127824435del	GRCh38
NC_000009.11:g.130586694_130586714del , CM000671.1:g.130586694_130586714del	GRCh37
NC_000009.10:g.129626515_129626535del	NCBI36
NG_009551.1:g.35340_35360del , LRG_589:g.35340_35360del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.463_483del	ENSP00000479015.1:p.Ser155_Thr161del
ENST00000373203.9:c.1009_1029del MANE Select	ENSP00000362299.4:p.Ser337_Thr343del
ENST00000344849.4:c.1009_1029del	ENSP00000341917.3:p.Ser337_Thr343del
ENST00000373203.8:c.1009_1029del	ENSP00000362299.4:p.Ser337_Thr343del
ENST00000480266.5:c.463_483del	ENSP00000479015.1:p.Ser155_Thr161del
NM_000118.3:c.1009_1029del , LRG_589t1:c.1009_1029del	NP_000109.1:p.Ser337_Thr343del
NM_001114753.2:c.1009_1029del , LRG_589t2:c.1009_1029del	NP_001108225.1:p.Ser337_Thr343del
NM_001278138.1:c.463_483del	NP_001265067.1:p.Ser155_Thr161del
NM_001114753.3:c.1009_1029del MANE Select	NP_001108225.1:p.Ser337_Thr343del
NM_001278138.2:c.463_483del	NP_001265067.1:p.Ser155_Thr161del