Canonical Allele Identifier: CA2499219642

Gene: ENG

Linked Data

• ClinVar Variation Id: 1163503
• ClinVar RCV Id: RCV001508633 ; RCV002368539 ; RCV003594129
• dbSNP Id: rs2131888057

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825348_127825353del , CM000671.2:g.127825348_127825353del	GRCh38
NC_000009.11:g.130587627_130587632del , CM000671.1:g.130587627_130587632del	GRCh37
NC_000009.10:g.129627448_129627453del	NCBI36
NG_009551.1:g.34416_34421del , LRG_589:g.34416_34421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.148_153del	ENSP00000479015.1:p.Arg50_Thr51del
ENST00000373203.9:c.694_699del MANE Select	ENSP00000362299.4:p.Arg232_Thr233del
ENST00000344849.4:c.694_699del	ENSP00000341917.3:p.Arg232_Thr233del
ENST00000373203.8:c.694_699del	ENSP00000362299.4:p.Arg232_Thr233del
ENST00000480266.5:c.148_153del	ENSP00000479015.1:p.Arg50_Thr51del
NM_000118.3:c.694_699del , LRG_589t1:c.694_699del	NP_000109.1:p.Arg232_Thr233del
NM_001114753.2:c.694_699del , LRG_589t2:c.694_699del	NP_001108225.1:p.Arg232_Thr233del
NM_001278138.1:c.148_153del	NP_001265067.1:p.Arg50_Thr51del
NM_001114753.3:c.694_699del MANE Select	NP_001108225.1:p.Arg232_Thr233del
NM_001278138.2:c.148_153del	NP_001265067.1:p.Arg50_Thr51del