Canonical Allele Identifier: CA1879981505

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815821_127815827delinsGGGGGCA , CM000671.2:g.127815821_127815827delinsGGGGGCA	GRCh38
NC_000009.11:g.130578100_130578106delinsGGGGGCA , CM000671.1:g.130578100_130578106delinsGGGGGCA	GRCh37
NC_000009.10:g.129617921_129617927delinsGGGGGCA	NCBI36
NG_009551.1:g.43942_43948delinsTGCCCCC , LRG_589:g.43942_43948delinsTGCCCCC
NG_023245.1:g.17947_17953delinsGGGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1307-21_1307-15delinsTGCCCCC	ENSP00000479015.1:n.1307-21_1307-15delinsTGCCCCC
ENST00000373203.9:c.1853-21_1853-15delinsTGCCCCC MANE Select	ENSP00000362299.4:n.1853-21_1853-15delinsTGCCCCC
ENST00000344849.4:c.*90_*96delinsTGCCCCC	ENSP00000341917.3:n.*90_*96delinsTGCCCCC
ENST00000373203.8:c.1853-21_1853-15delinsTGCCCCC	ENSP00000362299.4:n.1853-21_1853-15delinsTGCCCCC
ENST00000480266.5:c.1307-21_1307-15delinsTGCCCCC	ENSP00000479015.1:n.1307-21_1307-15delinsTGCCCCC
NM_000118.3:c.*90_*96delinsTGCCCCC , LRG_589t1:c.*90_*96delinsTGCCCCC	NP_000109.1:n.*90_*96delinsTGCCCCC
NM_001114753.2:c.1853-21_1853-15delinsTGCCCCC , LRG_589t2:c.1853-21_1853-15delinsTGCCCCC	NP_001108225.1:n.1853-21_1853-15delinsTGCCCCC
NM_001278138.1:c.1307-21_1307-15delinsTGCCCCC	NP_001265067.1:n.1307-21_1307-15delinsTGCCCCC
NM_001114753.3:c.1853-21_1853-15delinsTGCCCCC MANE Select	NP_001108225.1:n.1853-21_1853-15delinsTGCCCCC
NM_001278138.2:c.1307-21_1307-15delinsTGCCCCC	NP_001265067.1:n.1307-21_1307-15delinsTGCCCCC