Canonical Allele Identifier: CA1129276372

Gene: ENG

Linked Data

• gnomAD v3: 9-127820216-TGAGATGGAG-T
• gnomAD v4: 9-127820216-TGAGATGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820217_127820225del , CM000671.2:g.127820217_127820225del	GRCh38
NC_000009.11:g.130582496_130582504del , CM000671.1:g.130582496_130582504del	GRCh37
NC_000009.10:g.129622317_129622325del	NCBI36
NG_009551.1:g.39544_39552del , LRG_589:g.39544_39552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-188_589-180del	ENSP00000479015.1:n.589-188_589-180del
ENST00000373203.9:c.1135-188_1135-180del MANE Select	ENSP00000362299.4:n.1135-188_1135-180del
ENST00000344849.4:c.1135-188_1135-180del	ENSP00000341917.3:n.1135-188_1135-180del
ENST00000373203.8:c.1135-188_1135-180del	ENSP00000362299.4:n.1135-188_1135-180del
ENST00000480266.5:c.589-188_589-180del	ENSP00000479015.1:n.589-188_589-180del
ENST00000486329.1:n.103-188_103-180del
NM_000118.3:c.1135-188_1135-180del , LRG_589t1:c.1135-188_1135-180del	NP_000109.1:n.1135-188_1135-180del
NM_001114753.2:c.1135-188_1135-180del , LRG_589t2:c.1135-188_1135-180del	NP_001108225.1:n.1135-188_1135-180del
NM_001278138.1:c.589-188_589-180del	NP_001265067.1:n.589-188_589-180del
NR_136302.1:n.1569-978_1569-970del
NM_001114753.3:c.1135-188_1135-180del MANE Select	NP_001108225.1:n.1135-188_1135-180del
NM_001278138.2:c.589-188_589-180del	NP_001265067.1:n.589-188_589-180del