Canonical Allele Identifier: CA2691809490

Gene: ENG

Linked Data

• gnomAD v4: 9-127825618-GGAGAGGGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825620_127825629del , CM000671.2:g.127825620_127825629del	GRCh38
NC_000009.11:g.130587899_130587908del , CM000671.1:g.130587899_130587908del	GRCh37
NC_000009.10:g.129627720_129627729del	NCBI36
NG_009551.1:g.34141_34150del , LRG_589:g.34141_34150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.143+67_143+76del	ENSP00000479015.1:n.143+67_143+76del
ENST00000373203.9:c.689+67_689+76del MANE Select	ENSP00000362299.4:n.689+67_689+76del
ENST00000344849.4:c.689+67_689+76del	ENSP00000341917.3:n.689+67_689+76del
ENST00000373203.8:c.689+67_689+76del	ENSP00000362299.4:n.689+67_689+76del
ENST00000480266.5:c.143+67_143+76del	ENSP00000479015.1:n.143+67_143+76del
NM_000118.3:c.689+67_689+76del , LRG_589t1:c.689+67_689+76del	NP_000109.1:n.689+67_689+76del
NM_001114753.2:c.689+67_689+76del , LRG_589t2:c.689+67_689+76del	NP_001108225.1:n.689+67_689+76del
NM_001278138.1:c.143+67_143+76del	NP_001265067.1:n.143+67_143+76del
XR_001746952.2:n.82+162_82+171del
NM_001114753.3:c.689+67_689+76del MANE Select	NP_001108225.1:n.689+67_689+76del
NM_001278138.2:c.143+67_143+76del	NP_001265067.1:n.143+67_143+76del