Canonical Allele Identifier: CA2691805854

Gene: ENG

Linked Data

• gnomAD v4: 9-127818630-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818634_127818636del , CM000671.2:g.127818634_127818636del	GRCh38
NC_000009.11:g.130580913_130580915del , CM000671.1:g.130580913_130580915del	GRCh37
NC_000009.10:g.129620734_129620736del	NCBI36
NG_009551.1:g.41136_41138del , LRG_589:g.41136_41138del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.882+83_882+85del	ENSP00000479015.1:n.882+83_882+85del
ENST00000373203.9:c.1428+83_1428+85del MANE Select	ENSP00000362299.4:n.1428+83_1428+85del
ENST00000344849.4:c.1428+83_1428+85del	ENSP00000341917.3:n.1428+83_1428+85del
ENST00000373203.8:c.1428+83_1428+85del	ENSP00000362299.4:n.1428+83_1428+85del
ENST00000480266.5:c.882+83_882+85del	ENSP00000479015.1:n.882+83_882+85del
NM_000118.3:c.1428+83_1428+85del , LRG_589t1:c.1428+83_1428+85del	NP_000109.1:n.1428+83_1428+85del
NM_001114753.2:c.1428+83_1428+85del , LRG_589t2:c.1428+83_1428+85del	NP_001108225.1:n.1428+83_1428+85del
NM_001278138.1:c.882+83_882+85del	NP_001265067.1:n.882+83_882+85del
NR_136302.1:n.1491_1493del
NM_001114753.3:c.1428+83_1428+85del MANE Select	NP_001108225.1:n.1428+83_1428+85del
NM_001278138.2:c.882+83_882+85del	NP_001265067.1:n.882+83_882+85del