Canonical Allele Identifier: CA1879981471

Gene: ENG

Linked Data

• dbSNP Id: rs373296026
• gnomAD v4: 9-127815808-TGGGAGCGGGAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815812_127815823del , CM000671.2:g.127815812_127815823del	GRCh38
NC_000009.11:g.130578091_130578102del , CM000671.1:g.130578091_130578102del	GRCh37
NC_000009.10:g.129617912_129617923del	NCBI36
NG_009551.1:g.43949_43960del , LRG_589:g.43949_43960del
NG_023245.1:g.17938_17949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1307-14_1307-3del	ENSP00000479015.1:n.1307-14_1307-3del
ENST00000373203.9:c.1853-14_1853-3del MANE Select	ENSP00000362299.4:n.1853-14_1853-3del
ENST00000344849.4:c.*97_*108del	ENSP00000341917.3:n.*97_*108del
ENST00000373203.8:c.1853-14_1853-3del	ENSP00000362299.4:n.1853-14_1853-3del
ENST00000480266.5:c.1307-14_1307-3del	ENSP00000479015.1:n.1307-14_1307-3del
NM_000118.3:c.*97_*108del , LRG_589t1:c.*97_*108del	NP_000109.1:n.*97_*108del
NM_001114753.2:c.1853-14_1853-3del , LRG_589t2:c.1853-14_1853-3del	NP_001108225.1:n.1853-14_1853-3del
NM_001278138.1:c.1307-14_1307-3del	NP_001265067.1:n.1307-14_1307-3del
NM_001114753.3:c.1853-14_1853-3del MANE Select	NP_001108225.1:n.1853-14_1853-3del
NM_001278138.2:c.1307-14_1307-3del	NP_001265067.1:n.1307-14_1307-3del