Canonical Allele Identifier: CA860199836

Gene: ENG

Linked Data

• dbSNP Id: rs1457364917
• gnomAD v3: 9-127829448-GCACATCAACCTGA-G
• gnomAD v4: 9-127829448-GCACATCAACCTGA-G
• MyVariant Identifiers: chr9:g.130591728_130591740del (hg19) ; chr9:g.127829449_127829461del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829450_127829462del , CM000671.2:g.127829450_127829462del	GRCh38
NC_000009.11:g.130591729_130591741del , CM000671.1:g.130591729_130591741del	GRCh37
NC_000009.10:g.129631550_129631562del	NCBI36
NG_009551.1:g.30308_30320del , LRG_589:g.30308_30320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-187+226_-187+238del	ENSP00000479015.1:n.-187+226_-187+238del
ENST00000373203.9:c.360+226_360+238del MANE Select	ENSP00000362299.4:n.360+226_360+238del
ENST00000344849.4:c.360+226_360+238del	ENSP00000341917.3:n.360+226_360+238del
ENST00000373203.8:c.360+226_360+238del	ENSP00000362299.4:n.360+226_360+238del
ENST00000462196.1:n.118+226_118+238del
ENST00000480266.5:c.-187+226_-187+238del	ENSP00000479015.1:n.-187+226_-187+238del
NM_000118.3:c.360+226_360+238del , LRG_589t1:c.360+226_360+238del	NP_000109.1:n.360+226_360+238del
NM_001114753.2:c.360+226_360+238del , LRG_589t2:c.360+226_360+238del	NP_001108225.1:n.360+226_360+238del
NM_001278138.1:c.-187+226_-187+238del	NP_001265067.1:n.-187+226_-187+238del
XR_001746952.2:n.83-2948_83-2936del
NM_001114753.3:c.360+226_360+238del MANE Select	NP_001108225.1:n.360+226_360+238del
NM_001278138.2:c.-187+226_-187+238del	NP_001265067.1:n.-187+226_-187+238del