Canonical Allele Identifier: CA732242845

Gene: ENAH

Linked Data

• dbSNP Id: rs1179309293
• gnomAD v3: 1-225625099-CTGAGCGATAGACTTAA-C
• gnomAD v4: 1-225625099-CTGAGCGATAGACTTAA-C
• MyVariant Identifiers: chr1:g.225812802_225812817del (hg19) ; chr1:g.225625100_225625115del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225625101_225625116del , CM000663.2:g.225625101_225625116del	GRCh38
NC_000001.10:g.225812803_225812818del , CM000663.1:g.225812803_225812818del	GRCh37
NC_000001.9:g.223879426_223879441del	NCBI36
NG_051578.1:g.39931_39946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366843.7:c.5+27571_5+27586del MANE Select	ENSP00000355808.2:n.5+27571_5+27586del
ENST00000284563.7:c.5+27571_5+27586del	ENSP00000284563.7:n.5+27571_5+27586del
ENST00000366843.6:c.5+27571_5+27586del	ENSP00000355808.2:n.5+27571_5+27586del
ENST00000366844.7:c.5+27571_5+27586del	ENSP00000355809.2:n.5+27571_5+27586del
ENST00000635051.1:c.5+27571_5+27586del	ENSP00000489607.1:n.5+27571_5+27586del
NM_001008493.1:c.5+27571_5+27586del	NP_001008493.1:n.5+27571_5+27586del
NM_018212.4:c.5+27571_5+27586del	NP_060682.2:n.5+27571_5+27586del
XM_005273187.1:c.47+27203_47+27218del	XP_005273244.1:n.47+27203_47+27218del
XM_006711795.1:c.47+27203_47+27218del	XP_006711858.1:n.47+27203_47+27218del
XM_006711796.1:c.47+27203_47+27218del	XP_006711859.1:n.47+27203_47+27218del
XM_006711797.1:c.47+27203_47+27218del	XP_006711860.1:n.47+27203_47+27218del
XM_011544229.1:c.-35+27847_-35+27862del	XP_011542531.1:n.-35+27847_-35+27862del
XM_011544230.1:c.5+27571_5+27586del	XP_011542532.1:n.5+27571_5+27586del
XM_011544232.1:c.47+27203_47+27218del	XP_011542534.1:n.47+27203_47+27218del
XM_011544233.1:c.-35+34873_-35+34888del	XP_011542535.1:n.-35+34873_-35+34888del
XM_011544234.1:c.47+27203_47+27218del	XP_011542536.1:n.47+27203_47+27218del
NM_001008493.2:c.5+27571_5+27586del	NP_001008493.1:n.5+27571_5+27586del
NM_018212.5:c.5+27571_5+27586del	NP_060682.2:n.5+27571_5+27586del
XM_011544229.2:c.791+27847_791+27862del	XP_011542531.2:n.791+27847_791+27862del
XM_017001746.2:c.791+27847_791+27862del	XP_016857235.1:n.791+27847_791+27862del
XM_017001747.1:c.791+27847_791+27862del	XP_016857236.1:n.791+27847_791+27862del
XM_017001748.1:c.791+27847_791+27862del	XP_016857237.1:n.791+27847_791+27862del
XM_017001749.1:c.791+27847_791+27862del	XP_016857238.1:n.791+27847_791+27862del
XM_017001750.1:c.791+27847_791+27862del	XP_016857239.1:n.791+27847_791+27862del
XM_017001751.1:c.791+27847_791+27862del	XP_016857240.1:n.791+27847_791+27862del
XM_017001752.1:c.791+27847_791+27862del	XP_016857241.1:n.791+27847_791+27862del
XM_024448305.1:c.791+27847_791+27862del	XP_024304073.1:n.791+27847_791+27862del
XM_024448306.1:c.791+27847_791+27862del	XP_024304074.1:n.791+27847_791+27862del
XM_024448307.1:c.791+27847_791+27862del	XP_024304075.1:n.791+27847_791+27862del
XM_024448308.1:c.791+27847_791+27862del	XP_024304076.1:n.791+27847_791+27862del
XM_024448309.1:c.47+27203_47+27218del	XP_024304077.1:n.47+27203_47+27218del
XM_024448310.1:c.47+27203_47+27218del	XP_024304078.1:n.47+27203_47+27218del
XM_024448311.1:c.5+27571_5+27586del	XP_024304079.1:n.5+27571_5+27586del
XM_024448313.1:c.47+27203_47+27218del	XP_024304081.1:n.47+27203_47+27218del
XM_024448315.1:c.5+27571_5+27586del	XP_024304083.1:n.5+27571_5+27586del
XM_024448317.1:c.-35+34873_-35+34888del	XP_024304085.1:n.-35+34873_-35+34888del
XM_024448318.1:c.791+27847_791+27862del	XP_024304086.1:n.791+27847_791+27862del
XM_024448319.1:c.791+27847_791+27862del	XP_024304087.1:n.791+27847_791+27862del
NM_001008493.3:c.5+27571_5+27586del	NP_001008493.1:n.5+27571_5+27586del
NM_001377481.1:c.5+27571_5+27586del	NP_001364410.1:n.5+27571_5+27586del
NM_001377482.1:c.5+27571_5+27586del	NP_001364411.1:n.5+27571_5+27586del
NM_001377483.1:c.5+27571_5+27586del	NP_001364412.1:n.5+27571_5+27586del
NM_018212.6:c.5+27571_5+27586del MANE Select	NP_060682.2:n.5+27571_5+27586del