Canonical Allele Identifier: CA2954042562
Gene: ENG HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825636_127825637insGGGAGGGGGGGGGGG , CM000671.2:g.127825636_127825637insGGGAGGGGGGGGGGG GRCh38
NC_000009.11:g.130587915_130587916insGGGAGGGGGGGGGGG , CM000671.1:g.130587915_130587916insGGGAGGGGGGGGGGG GRCh37
NC_000009.10:g.129627736_129627737insGGGAGGGGGGGGGGG NCBI36
NG_009551.1:g.34140_34141insCCCTCCCCCCCCCCC , LRG_589:g.34140_34141insCCCTCCCCCCCCCCC

Transcript Alleles

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