Canonical Allele Identifier: CA1012860537

Gene: ENAH

Linked Data

• dbSNP Id: rs2096239597
• gnomAD v3: 1-225494389-CAAT-C
• gnomAD v4: 1-225494389-CAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225494393_225494395del , CM000663.2:g.225494393_225494395del	GRCh38
NC_000001.10:g.225682095_225682097del , CM000663.1:g.225682095_225682097del	GRCh37
NC_000001.9:g.223748718_223748720del	NCBI36
NG_051578.1:g.170654_170656del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696609.1:c.*3383_*3385del	ENSP00000512753.1:n.*3383_*3385del
ENST00000366843.7:c.*3383_*3385del MANE Select	ENSP00000355808.2:n.*3383_*3385del
ENST00000366844.7:c.*3383_*3385del	ENSP00000355809.2:n.*3383_*3385del
NM_001008493.1:c.*3383_*3385del	NP_001008493.1:n.*3383_*3385del
NM_018212.4:c.*3383_*3385del	NP_060682.2:n.*3383_*3385del
NM_001008493.2:c.*3383_*3385del	NP_001008493.1:n.*3383_*3385del
NM_018212.5:c.*3383_*3385del	NP_060682.2:n.*3383_*3385del
XM_011544229.2:c.*3383_*3385del	XP_011542531.2:n.*3383_*3385del
XM_017001746.2:c.*3383_*3385del	XP_016857235.1:n.*3383_*3385del
XM_017001747.1:c.*3383_*3385del	XP_016857236.1:n.*3383_*3385del
XM_017001748.1:c.*3383_*3385del	XP_016857237.1:n.*3383_*3385del
XM_017001749.1:c.*3383_*3385del	XP_016857238.1:n.*3383_*3385del
XM_017001750.1:c.*3383_*3385del	XP_016857239.1:n.*3383_*3385del
XM_017001751.1:c.*3383_*3385del	XP_016857240.1:n.*3383_*3385del
XM_017001752.1:c.*3383_*3385del	XP_016857241.1:n.*3383_*3385del
XM_024448305.1:c.*3383_*3385del	XP_024304073.1:n.*3383_*3385del
XM_024448306.1:c.*3383_*3385del	XP_024304074.1:n.*3383_*3385del
XM_024448307.1:c.*3383_*3385del	XP_024304075.1:n.*3383_*3385del
XM_024448308.1:c.*3383_*3385del	XP_024304076.1:n.*3383_*3385del
XM_024448309.1:c.*3383_*3385del	XP_024304077.1:n.*3383_*3385del
XM_024448310.1:c.*3383_*3385del	XP_024304078.1:n.*3383_*3385del
XM_024448311.1:c.*3383_*3385del	XP_024304079.1:n.*3383_*3385del
XM_024448313.1:c.*3383_*3385del	XP_024304081.1:n.*3383_*3385del
XM_024448314.1:c.*3383_*3385del	XP_024304082.1:n.*3383_*3385del
XM_024448315.1:c.*3383_*3385del	XP_024304083.1:n.*3383_*3385del
XM_024448316.1:c.*3383_*3385del	XP_024304084.1:n.*3383_*3385del
XM_024448317.1:c.*3383_*3385del	XP_024304085.1:n.*3383_*3385del
XM_024448318.1:c.*3383_*3385del	XP_024304086.1:n.*3383_*3385del
XM_024448319.1:c.*3383_*3385del	XP_024304087.1:n.*3383_*3385del
NM_001008493.3:c.*3383_*3385del	NP_001008493.1:n.*3383_*3385del
NM_001377481.1:c.*3383_*3385del	NP_001364410.1:n.*3383_*3385del
NM_001377482.1:c.*3383_*3385del	NP_001364411.1:n.*3383_*3385del
NM_001377483.1:c.*3383_*3385del	NP_001364412.1:n.*3383_*3385del
NM_018212.6:c.*3383_*3385del MANE Select	NP_060682.2:n.*3383_*3385del