Canonical Allele Identifier: CA1483969740

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027968_108027970delinsGAA , CM000666.2:g.108027968_108027970delinsGAA	GRCh38
NC_000004.11:g.108949124_108949126delinsGAA , CM000666.1:g.108949124_108949126delinsGAA	GRCh37
NC_000004.10:g.109168573_109168575delinsGAA	NCBI36
NG_008156.2:g.43185_43187delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5127_5129delinsGAA
ENST00000510728.6:n.1727_1729delinsGAA
ENST00000514776.3:n.350_352delinsGAA
ENST00000515462.7:n.2104_2106delinsGAA
ENST00000626637.2:c.721+208_721+210delinsGAA	ENSP00000486771.1:n.721+208_721+210delinsGAA
ENST00000638648.2:c.*1_*3delinsGAA	ENSP00000507949.1:n.*1_*3delinsGAA
ENST00000640201.2:n.1003_1005delinsGAA
ENST00000640752.2:n.4919+208_4919+210delinsGAA
ENST00000682067.1:c.542+208_542+210delinsGAA
ENST00000682086.1:n.986_988delinsGAA
ENST00000682373.1:c.368+208_368+210delinsGAA
ENST00000684696.1:c.666_668delinsGAA	ENSP00000507675.1:p.Glu222=
ENST00000309522.8:c.709+208_709+210delinsGAA MANE Select	ENSP00000312288.4:n.709+208_709+210delinsGAA
ENST00000403312.6:c.709+208_709+210delinsGAA	ENSP00000385638.3:n.709+208_709+210delinsGAA
ENST00000505878.4:c.886+208_886+210delinsGAA	ENSP00000425952.2:n.886+208_886+210delinsGAA
ENST00000514776.2:n.350_352delinsGAA
ENST00000515462.6:n.2104_2106delinsGAA
ENST00000638559.1:c.567+208_567+210delinsGAA
ENST00000638621.1:c.295+208_295+210delinsGAA	ENSP00000491581.1:n.295+208_295+210delinsGAA
ENST00000638648.1:n.860+208_860+210delinsGAA
ENST00000639146.1:c.*1_*3delinsGAA	ENSP00000492345.1:n.*1_*3delinsGAA
ENST00000639335.1:c.*144+208_*144+210delinsGAA	ENSP00000491310.1:n.*144+208_*144+210delinsGAA
ENST00000639698.1:c.516+4405_516+4407delinsGAA	ENSP00000492420.1:n.516+4405_516+4407delinsGAA
ENST00000639784.1:c.373+4405_373+4407delinsGAA
ENST00000640048.1:c.681+208_681+210delinsGAA	ENSP00000492009.1:n.681+208_681+210delinsGAA
ENST00000640060.1:c.*804+208_*804+210delinsGAA	ENSP00000492734.1:n.*804+208_*804+210delinsGAA
ENST00000640201.1:n.872_874delinsGAA
ENST00000640752.1:n.4912+208_4912+210delinsGAA
ENST00000309522.7:c.709+208_709+210delinsGAA	ENSP00000312288.3:n.709+208_709+210delinsGAA
ENST00000403312.5:c.886+208_886+210delinsGAA	ENSP00000385638.2:n.886+208_886+210delinsGAA
ENST00000505878.3:c.721+208_721+210delinsGAA	ENSP00000425952.1:n.721+208_721+210delinsGAA
ENST00000510728.5:n.279_281delinsGAA
ENST00000515462.5:n.254_256delinsGAA
ENST00000603302.5:c.709+208_709+210delinsGAA	ENSP00000474560.1:n.709+208_709+210delinsGAA
ENST00000626637.1:c.721+208_721+210delinsGAA	ENSP00000486771.1:n.721+208_721+210delinsGAA
NM_001184705.2:c.709+208_709+210delinsGAA	NP_001171634.2:n.709+208_709+210delinsGAA
NM_005327.4:c.709+208_709+210delinsGAA	NP_005318.3:n.709+208_709+210delinsGAA
XM_005262972.1:c.721+208_721+210delinsGAA	XP_005263029.1:n.721+208_721+210delinsGAA
XR_938726.1:n.1066_1068delinsGAA
NM_001331027.1:c.721+208_721+210delinsGAA	NP_001317956.1:n.721+208_721+210delinsGAA
XR_001741214.2:n.833_835delinsGAA
XR_002959727.1:n.1011_1013delinsGAA
NM_001184705.3:c.709+208_709+210delinsGAA	NP_001171634.2:n.709+208_709+210delinsGAA
NM_005327.7:c.709+208_709+210delinsGAA MANE Select	NP_005318.6:n.709+208_709+210delinsGAA
NM_001184705.4:c.709+208_709+210delinsGAA	NP_001171634.3:n.709+208_709+210delinsGAA
NM_001331027.2:c.721+208_721+210delinsGAA	NP_001317956.2:n.721+208_721+210delinsGAA