Canonical Allele Identifier: CA39038899

Gene: ENAH

Linked Data

• dbSNP Id: rs751330503
• gnomAD v2: 1-225812918-CAAGAT-C
• gnomAD v3: 1-225625216-CAAGAT-C
• gnomAD v4: 1-225625216-CAAGAT-C
• MyVariant Identifiers: chr1:g.225812919_225812923del (hg19) ; chr1:g.225625217_225625221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225625219_225625223del , CM000663.2:g.225625219_225625223del	GRCh38
NC_000001.10:g.225812921_225812925del , CM000663.1:g.225812921_225812925del	GRCh37
NC_000001.9:g.223879544_223879548del	NCBI36
NG_051578.1:g.39825_39829del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366843.7:c.5+27465_5+27469del MANE Select	ENSP00000355808.2:n.5+27465_5+27469del
ENST00000284563.7:c.5+27465_5+27469del	ENSP00000284563.7:n.5+27465_5+27469del
ENST00000366843.6:c.5+27465_5+27469del	ENSP00000355808.2:n.5+27465_5+27469del
ENST00000366844.7:c.5+27465_5+27469del	ENSP00000355809.2:n.5+27465_5+27469del
ENST00000635051.1:c.5+27465_5+27469del	ENSP00000489607.1:n.5+27465_5+27469del
NM_001008493.1:c.5+27465_5+27469del	NP_001008493.1:n.5+27465_5+27469del
NM_018212.4:c.5+27465_5+27469del	NP_060682.2:n.5+27465_5+27469del
XM_005273187.1:c.47+27097_47+27101del	XP_005273244.1:n.47+27097_47+27101del
XM_006711795.1:c.47+27097_47+27101del	XP_006711858.1:n.47+27097_47+27101del
XM_006711796.1:c.47+27097_47+27101del	XP_006711859.1:n.47+27097_47+27101del
XM_006711797.1:c.47+27097_47+27101del	XP_006711860.1:n.47+27097_47+27101del
XM_011544229.1:c.-35+27741_-35+27745del	XP_011542531.1:n.-35+27741_-35+27745del
XM_011544230.1:c.5+27465_5+27469del	XP_011542532.1:n.5+27465_5+27469del
XM_011544232.1:c.47+27097_47+27101del	XP_011542534.1:n.47+27097_47+27101del
XM_011544233.1:c.-35+34767_-35+34771del	XP_011542535.1:n.-35+34767_-35+34771del
XM_011544234.1:c.47+27097_47+27101del	XP_011542536.1:n.47+27097_47+27101del
NM_001008493.2:c.5+27465_5+27469del	NP_001008493.1:n.5+27465_5+27469del
NM_018212.5:c.5+27465_5+27469del	NP_060682.2:n.5+27465_5+27469del
XM_011544229.2:c.791+27741_791+27745del	XP_011542531.2:n.791+27741_791+27745del
XM_017001746.2:c.791+27741_791+27745del	XP_016857235.1:n.791+27741_791+27745del
XM_017001747.1:c.791+27741_791+27745del	XP_016857236.1:n.791+27741_791+27745del
XM_017001748.1:c.791+27741_791+27745del	XP_016857237.1:n.791+27741_791+27745del
XM_017001749.1:c.791+27741_791+27745del	XP_016857238.1:n.791+27741_791+27745del
XM_017001750.1:c.791+27741_791+27745del	XP_016857239.1:n.791+27741_791+27745del
XM_017001751.1:c.791+27741_791+27745del	XP_016857240.1:n.791+27741_791+27745del
XM_017001752.1:c.791+27741_791+27745del	XP_016857241.1:n.791+27741_791+27745del
XM_024448305.1:c.791+27741_791+27745del	XP_024304073.1:n.791+27741_791+27745del
XM_024448306.1:c.791+27741_791+27745del	XP_024304074.1:n.791+27741_791+27745del
XM_024448307.1:c.791+27741_791+27745del	XP_024304075.1:n.791+27741_791+27745del
XM_024448308.1:c.791+27741_791+27745del	XP_024304076.1:n.791+27741_791+27745del
XM_024448309.1:c.47+27097_47+27101del	XP_024304077.1:n.47+27097_47+27101del
XM_024448310.1:c.47+27097_47+27101del	XP_024304078.1:n.47+27097_47+27101del
XM_024448311.1:c.5+27465_5+27469del	XP_024304079.1:n.5+27465_5+27469del
XM_024448313.1:c.47+27097_47+27101del	XP_024304081.1:n.47+27097_47+27101del
XM_024448315.1:c.5+27465_5+27469del	XP_024304083.1:n.5+27465_5+27469del
XM_024448317.1:c.-35+34767_-35+34771del	XP_024304085.1:n.-35+34767_-35+34771del
XM_024448318.1:c.791+27741_791+27745del	XP_024304086.1:n.791+27741_791+27745del
XM_024448319.1:c.791+27741_791+27745del	XP_024304087.1:n.791+27741_791+27745del
NM_001008493.3:c.5+27465_5+27469del	NP_001008493.1:n.5+27465_5+27469del
NM_001377481.1:c.5+27465_5+27469del	NP_001364410.1:n.5+27465_5+27469del
NM_001377482.1:c.5+27465_5+27469del	NP_001364411.1:n.5+27465_5+27469del
NM_001377483.1:c.5+27465_5+27469del	NP_001364412.1:n.5+27465_5+27469del
NM_018212.6:c.5+27465_5+27469del MANE Select	NP_060682.2:n.5+27465_5+27469del