Canonical Allele Identifier: CA1129280059

Gene: ENG

Linked Data

• gnomAD v3: 9-127825628-C-CGGGGGGGGGGCAGG
• gnomAD v4: 9-127825628-C-CGGGGGGGGGGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825636_127825637insGGCAGGGGGGGGGG , CM000671.2:g.127825636_127825637insGGCAGGGGGGGGGG	GRCh38
NC_000009.11:g.130587915_130587916insGGCAGGGGGGGGGG , CM000671.1:g.130587915_130587916insGGCAGGGGGGGGGG	GRCh37
NC_000009.10:g.129627736_129627737insGGCAGGGGGGGGGG	NCBI36
NG_009551.1:g.34140_34141insCCTGCCCCCCCCCC , LRG_589:g.34140_34141insCCTGCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.143+66_143+67insCCTGCCCCCCCCCC	ENSP00000479015.1:n.143+66_143+67insCCTGCCCCCCCCCC
ENST00000373203.9:c.689+66_689+67insCCTGCCCCCCCCCC MANE Select	ENSP00000362299.4:n.689+66_689+67insCCTGCCCCCCCCCC
ENST00000344849.4:c.689+66_689+67insCCTGCCCCCCCCCC	ENSP00000341917.3:n.689+66_689+67insCCTGCCCCCCCCCC
ENST00000373203.8:c.689+66_689+67insCCTGCCCCCCCCCC	ENSP00000362299.4:n.689+66_689+67insCCTGCCCCCCCCCC
ENST00000480266.5:c.143+66_143+67insCCTGCCCCCCCCCC	ENSP00000479015.1:n.143+66_143+67insCCTGCCCCCCCCCC
NM_000118.3:c.689+66_689+67insCCTGCCCCCCCCCC , LRG_589t1:c.689+66_689+67insCCTGCCCCCCCCCC	NP_000109.1:n.689+66_689+67insCCTGCCCCCCCCCC
NM_001114753.2:c.689+66_689+67insCCTGCCCCCCCCCC , LRG_589t2:c.689+66_689+67insCCTGCCCCCCCCCC	NP_001108225.1:n.689+66_689+67insCCTGCCCCCCCCCC
NM_001278138.1:c.143+66_143+67insCCTGCCCCCCCCCC	NP_001265067.1:n.143+66_143+67insCCTGCCCCCCCCCC
XR_001746952.2:n.82+178_82+179insGGCAGGGGGGGGGG
NM_001114753.3:c.689+66_689+67insCCTGCCCCCCCCCC MANE Select	NP_001108225.1:n.689+66_689+67insCCTGCCCCCCCCCC
NM_001278138.2:c.143+66_143+67insCCTGCCCCCCCCCC	NP_001265067.1:n.143+66_143+67insCCTGCCCCCCCCCC