Canonical Allele Identifier: CA38523188

Gene: ENAH

Linked Data

• dbSNP Id: rs1011796760
• gnomAD v2: 1-225676501-TCTGA-T
• gnomAD v3: 1-225488799-TCTGA-T
• gnomAD v4: 1-225488799-TCTGA-T
• MyVariant Identifiers: chr1:g.225676502_225676505del (hg19) ; chr1:g.225488800_225488803del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225488802_225488805del , CM000663.2:g.225488802_225488805del	GRCh38
NC_000001.10:g.225676504_225676507del , CM000663.1:g.225676504_225676507del	GRCh37
NC_000001.9:g.223743127_223743130del	NCBI36
NG_051578.1:g.176243_176246del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696609.1:c.*8972_*8975del	ENSP00000512753.1:n.*8972_*8975del
ENST00000366843.7:c.*8972_*8975del MANE Select	ENSP00000355808.2:n.*8972_*8975del
ENST00000366844.7:c.*8972_*8975del	ENSP00000355809.2:n.*8972_*8975del
NM_001008493.1:c.*8972_*8975del	NP_001008493.1:n.*8972_*8975del
NM_018212.4:c.*8972_*8975del	NP_060682.2:n.*8972_*8975del
NM_001008493.2:c.*8972_*8975del	NP_001008493.1:n.*8972_*8975del
NM_018212.5:c.*8972_*8975del	NP_060682.2:n.*8972_*8975del
XM_017001751.1:c.*8972_*8975del	XP_016857240.1:n.*8972_*8975del
XM_024448309.1:c.*8972_*8975del	XP_024304077.1:n.*8972_*8975del
XM_024448310.1:c.*8972_*8975del	XP_024304078.1:n.*8972_*8975del
XM_024448311.1:c.*8972_*8975del	XP_024304079.1:n.*8972_*8975del
XM_024448313.1:c.*8972_*8975del	XP_024304081.1:n.*8972_*8975del
XM_024448314.1:c.*8972_*8975del	XP_024304082.1:n.*8972_*8975del
XM_024448315.1:c.*8972_*8975del	XP_024304083.1:n.*8972_*8975del
XM_024448316.1:c.*8972_*8975del	XP_024304084.1:n.*8972_*8975del
XM_024448317.1:c.*8972_*8975del	XP_024304085.1:n.*8972_*8975del
NM_001008493.3:c.*8972_*8975del	NP_001008493.1:n.*8972_*8975del
NM_001377481.1:c.*8972_*8975del	NP_001364410.1:n.*8972_*8975del
NM_001377482.1:c.*8972_*8975del	NP_001364411.1:n.*8972_*8975del
NM_001377483.1:c.*8972_*8975del	NP_001364412.1:n.*8972_*8975del
NM_018212.6:c.*8972_*8975del MANE Select	NP_060682.2:n.*8972_*8975del