Canonical Allele Identifier: CA1879981375
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1830705192

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127829460_127829463del , CM000671.2:g.127829460_127829463del GRCh38
NC_000009.11:g.130591739_130591742del , CM000671.1:g.130591739_130591742del GRCh37
NC_000009.10:g.129631560_129631563del NCBI36
NG_009551.1:g.30308_30311del , LRG_589:g.30308_30311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-187+226_-187+229del ENSP00000479015.1:n.-187+226_-187+229del
ENST00000373203.9:c.360+226_360+229del MANE Select ENSP00000362299.4:n.360+226_360+229del
ENST00000344849.4:c.360+226_360+229del ENSP00000341917.3:n.360+226_360+229del
ENST00000373203.8:c.360+226_360+229del ENSP00000362299.4:n.360+226_360+229del
ENST00000462196.1:n.118+226_118+229del
ENST00000480266.5:c.-187+226_-187+229del ENSP00000479015.1:n.-187+226_-187+229del
NM_000118.3:c.360+226_360+229del , LRG_589t1:c.360+226_360+229del NP_000109.1:n.360+226_360+229del
NM_001114753.2:c.360+226_360+229del , LRG_589t2:c.360+226_360+229del NP_001108225.1:n.360+226_360+229del
NM_001278138.1:c.-187+226_-187+229del NP_001265067.1:n.-187+226_-187+229del
XR_001746952.2:n.83-2938_83-2935del
NM_001114753.3:c.360+226_360+229del MANE Select NP_001108225.1:n.360+226_360+229del
NM_001278138.2:c.-187+226_-187+229del NP_001265067.1:n.-187+226_-187+229del