Canonical Allele Identifier: CA590939369

Gene: ENG

Linked Data

• dbSNP Id: rs1449495191
• gnomAD v2: 9-130578162-GGCTCCCCCGGGTGGATGGAGGGGCCCGGCAT-G
• gnomAD v4: 9-127815883-GGCTCCCCCGGGTGGATGGAGGGGCCCGGCAT-G
• MyVariant Identifiers: chr9:g.130578163_130578193del (hg19) ; chr9:g.127815884_127815914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815888_127815918del , CM000671.2:g.127815888_127815918del	GRCh38
NC_000009.11:g.130578167_130578197del , CM000671.1:g.130578167_130578197del	GRCh37
NC_000009.10:g.129617988_129618018del	NCBI36
NG_009551.1:g.43855_43885del , LRG_589:g.43855_43885del
NG_023245.1:g.18014_18044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1306+29_1306+59del	ENSP00000479015.1:n.1306+29_1306+59del
ENST00000373203.9:c.1852+29_1852+59del MANE Select	ENSP00000362299.4:n.1852+29_1852+59del
ENST00000344849.4:c.*3_*33del	ENSP00000341917.3:n.*3_*33del
ENST00000373203.8:c.1852+29_1852+59del	ENSP00000362299.4:n.1852+29_1852+59del
ENST00000480266.5:c.1306+29_1306+59del	ENSP00000479015.1:n.1306+29_1306+59del
NM_000118.3:c.*3_*33del , LRG_589t1:c.*3_*33del	NP_000109.1:n.*3_*33del
NM_001114753.2:c.1852+29_1852+59del , LRG_589t2:c.1852+29_1852+59del	NP_001108225.1:n.1852+29_1852+59del
NM_001278138.1:c.1306+29_1306+59del	NP_001265067.1:n.1306+29_1306+59del
NM_001114753.3:c.1852+29_1852+59del MANE Select	NP_001108225.1:n.1852+29_1852+59del
NM_001278138.2:c.1306+29_1306+59del	NP_001265067.1:n.1306+29_1306+59del