Canonical Allele Identifier: CA2763006718

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027998_108027999insCCAAACACACCCAA , CM000666.2:g.108027998_108027999insCCAAACACACCCAA	GRCh38
NC_000004.11:g.108949154_108949155insCCAAACACACCCAA , CM000666.1:g.108949154_108949155insCCAAACACACCCAA	GRCh37
NC_000004.10:g.109168603_109168604insCCAAACACACCCAA	NCBI36
NG_008156.2:g.43215_43216insCCAAACACACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5157_5158insCCAAACACACCCAA
ENST00000510728.6:n.1757_1758insCCAAACACACCCAA
ENST00000514776.3:n.380_381insCCAAACACACCCAA
ENST00000515462.7:n.2134_2135insCCAAACACACCCAA
ENST00000626637.2:c.721+238_721+239insCCAAACACACCCAA	ENSP00000486771.1:n.721+238_721+239insCCAAACACACCCAA
ENST00000638648.2:c.*31_*32insCCAAACACACCCAA	ENSP00000507949.1:n.*31_*32insCCAAACACACCCAA
ENST00000640201.2:n.1033_1034insCCAAACACACCCAA
ENST00000640752.2:n.4919+238_4919+239insCCAAACACACCCAA
ENST00000682067.1:c.542+238_542+239insCCAAACACACCCAA
ENST00000682086.1:n.1016_1017insCCAAACACACCCAA
ENST00000682373.1:c.368+238_368+239insCCAAACACACCCAA
ENST00000684696.1:c.696_697insCCAAACACACCCAA	ENSP00000507675.1:p.Tyr233ProfsTer26
ENST00000309522.8:c.709+238_709+239insCCAAACACACCCAA MANE Select	ENSP00000312288.4:n.709+238_709+239insCCAAACACACCCAA
ENST00000403312.6:c.709+238_709+239insCCAAACACACCCAA	ENSP00000385638.3:n.709+238_709+239insCCAAACACACCCAA
ENST00000505878.4:c.886+238_886+239insCCAAACACACCCAA	ENSP00000425952.2:n.886+238_886+239insCCAAACACACCCAA
ENST00000514776.2:n.380_381insCCAAACACACCCAA
ENST00000515462.6:n.2134_2135insCCAAACACACCCAA
ENST00000638559.1:c.567+238_567+239insCCAAACACACCCAA
ENST00000638621.1:c.295+238_295+239insCCAAACACACCCAA	ENSP00000491581.1:n.295+238_295+239insCCAAACACACCCAA
ENST00000638648.1:n.860+238_860+239insCCAAACACACCCAA
ENST00000639146.1:c.*31_*32insCCAAACACACCCAA	ENSP00000492345.1:n.*31_*32insCCAAACACACCCAA
ENST00000639335.1:c.*144+238_*144+239insCCAAACACACCCAA	ENSP00000491310.1:n.*144+238_*144+239insCCAAACACACCCAA
ENST00000639698.1:c.516+4435_516+4436insCCAAACACACCCAA	ENSP00000492420.1:n.516+4435_516+4436insCCAAACACACCCAA
ENST00000639784.1:c.373+4435_373+4436insCCAAACACACCCAA
ENST00000640048.1:c.681+238_681+239insCCAAACACACCCAA	ENSP00000492009.1:n.681+238_681+239insCCAAACACACCCAA
ENST00000640060.1:c.*804+238_*804+239insCCAAACACACCCAA	ENSP00000492734.1:n.*804+238_*804+239insCCAAACACACCCAA
ENST00000640201.1:n.902_903insCCAAACACACCCAA
ENST00000640752.1:n.4912+238_4912+239insCCAAACACACCCAA
ENST00000309522.7:c.709+238_709+239insCCAAACACACCCAA	ENSP00000312288.3:n.709+238_709+239insCCAAACACACCCAA
ENST00000403312.5:c.886+238_886+239insCCAAACACACCCAA	ENSP00000385638.2:n.886+238_886+239insCCAAACACACCCAA
ENST00000505878.3:c.721+238_721+239insCCAAACACACCCAA	ENSP00000425952.1:n.721+238_721+239insCCAAACACACCCAA
ENST00000510728.5:n.309_310insCCAAACACACCCAA
ENST00000515462.5:n.284_285insCCAAACACACCCAA
ENST00000603302.5:c.709+238_709+239insCCAAACACACCCAA	ENSP00000474560.1:n.709+238_709+239insCCAAACACACCCAA
ENST00000626637.1:c.721+238_721+239insCCAAACACACCCAA	ENSP00000486771.1:n.721+238_721+239insCCAAACACACCCAA
NM_001184705.2:c.709+238_709+239insCCAAACACACCCAA	NP_001171634.2:n.709+238_709+239insCCAAACACACCCAA
NM_005327.4:c.709+238_709+239insCCAAACACACCCAA	NP_005318.3:n.709+238_709+239insCCAAACACACCCAA
XM_005262972.1:c.721+238_721+239insCCAAACACACCCAA	XP_005263029.1:n.721+238_721+239insCCAAACACACCCAA
XR_938726.1:n.1096_1097insCCAAACACACCCAA
NM_001331027.1:c.721+238_721+239insCCAAACACACCCAA	NP_001317956.1:n.721+238_721+239insCCAAACACACCCAA
XR_001741214.2:n.863_864insCCAAACACACCCAA
XR_002959727.1:n.1041_1042insCCAAACACACCCAA
NM_001184705.3:c.709+238_709+239insCCAAACACACCCAA	NP_001171634.2:n.709+238_709+239insCCAAACACACCCAA
NM_005327.7:c.709+238_709+239insCCAAACACACCCAA MANE Select	NP_005318.6:n.709+238_709+239insCCAAACACACCCAA
NM_001184705.4:c.709+238_709+239insCCAAACACACCCAA	NP_001171634.3:n.709+238_709+239insCCAAACACACCCAA
NM_001331027.2:c.721+238_721+239insCCAAACACACCCAA	NP_001317956.2:n.721+238_721+239insCCAAACACACCCAA