Canonical Allele Identifier: CA2763006717

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027996_108027997insCCCAAACACACCCA , CM000666.2:g.108027996_108027997insCCCAAACACACCCA	GRCh38
NC_000004.11:g.108949152_108949153insCCCAAACACACCCA , CM000666.1:g.108949152_108949153insCCCAAACACACCCA	GRCh37
NC_000004.10:g.109168601_109168602insCCCAAACACACCCA	NCBI36
NG_008156.2:g.43213_43214insCCCAAACACACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5155_5156insCCCAAACACACCCA
ENST00000510728.6:n.1755_1756insCCCAAACACACCCA
ENST00000514776.3:n.378_379insCCCAAACACACCCA
ENST00000515462.7:n.2132_2133insCCCAAACACACCCA
ENST00000626637.2:c.721+236_721+237insCCCAAACACACCCA	ENSP00000486771.1:n.721+236_721+237insCCCAAACACACCCA
ENST00000638648.2:c.*29_*30insCCCAAACACACCCA	ENSP00000507949.1:n.*29_*30insCCCAAACACACCCA
ENST00000640201.2:n.1031_1032insCCCAAACACACCCA
ENST00000640752.2:n.4919+236_4919+237insCCCAAACACACCCA
ENST00000682067.1:c.542+236_542+237insCCCAAACACACCCA
ENST00000682086.1:n.1014_1015insCCCAAACACACCCA
ENST00000682373.1:c.368+236_368+237insCCCAAACACACCCA
ENST00000684696.1:c.694_695insCCCAAACACACCCA	ENSP00000507675.1:p.His232ProfsTer27
ENST00000309522.8:c.709+236_709+237insCCCAAACACACCCA MANE Select	ENSP00000312288.4:n.709+236_709+237insCCCAAACACACCCA
ENST00000403312.6:c.709+236_709+237insCCCAAACACACCCA	ENSP00000385638.3:n.709+236_709+237insCCCAAACACACCCA
ENST00000505878.4:c.886+236_886+237insCCCAAACACACCCA	ENSP00000425952.2:n.886+236_886+237insCCCAAACACACCCA
ENST00000514776.2:n.378_379insCCCAAACACACCCA
ENST00000515462.6:n.2132_2133insCCCAAACACACCCA
ENST00000638559.1:c.567+236_567+237insCCCAAACACACCCA
ENST00000638621.1:c.295+236_295+237insCCCAAACACACCCA	ENSP00000491581.1:n.295+236_295+237insCCCAAACACACCCA
ENST00000638648.1:n.860+236_860+237insCCCAAACACACCCA
ENST00000639146.1:c.*29_*30insCCCAAACACACCCA	ENSP00000492345.1:n.*29_*30insCCCAAACACACCCA
ENST00000639335.1:c.*144+236_*144+237insCCCAAACACACCCA	ENSP00000491310.1:n.*144+236_*144+237insCCCAAACACACCCA
ENST00000639698.1:c.516+4433_516+4434insCCCAAACACACCCA	ENSP00000492420.1:n.516+4433_516+4434insCCCAAACACACCCA
ENST00000639784.1:c.373+4433_373+4434insCCCAAACACACCCA
ENST00000640048.1:c.681+236_681+237insCCCAAACACACCCA	ENSP00000492009.1:n.681+236_681+237insCCCAAACACACCCA
ENST00000640060.1:c.*804+236_*804+237insCCCAAACACACCCA	ENSP00000492734.1:n.*804+236_*804+237insCCCAAACACACCCA
ENST00000640201.1:n.900_901insCCCAAACACACCCA
ENST00000640752.1:n.4912+236_4912+237insCCCAAACACACCCA
ENST00000309522.7:c.709+236_709+237insCCCAAACACACCCA	ENSP00000312288.3:n.709+236_709+237insCCCAAACACACCCA
ENST00000403312.5:c.886+236_886+237insCCCAAACACACCCA	ENSP00000385638.2:n.886+236_886+237insCCCAAACACACCCA
ENST00000505878.3:c.721+236_721+237insCCCAAACACACCCA	ENSP00000425952.1:n.721+236_721+237insCCCAAACACACCCA
ENST00000510728.5:n.307_308insCCCAAACACACCCA
ENST00000515462.5:n.282_283insCCCAAACACACCCA
ENST00000603302.5:c.709+236_709+237insCCCAAACACACCCA	ENSP00000474560.1:n.709+236_709+237insCCCAAACACACCCA
ENST00000626637.1:c.721+236_721+237insCCCAAACACACCCA	ENSP00000486771.1:n.721+236_721+237insCCCAAACACACCCA
NM_001184705.2:c.709+236_709+237insCCCAAACACACCCA	NP_001171634.2:n.709+236_709+237insCCCAAACACACCCA
NM_005327.4:c.709+236_709+237insCCCAAACACACCCA	NP_005318.3:n.709+236_709+237insCCCAAACACACCCA
XM_005262972.1:c.721+236_721+237insCCCAAACACACCCA	XP_005263029.1:n.721+236_721+237insCCCAAACACACCCA
XR_938726.1:n.1094_1095insCCCAAACACACCCA
NM_001331027.1:c.721+236_721+237insCCCAAACACACCCA	NP_001317956.1:n.721+236_721+237insCCCAAACACACCCA
XR_001741214.2:n.861_862insCCCAAACACACCCA
XR_002959727.1:n.1039_1040insCCCAAACACACCCA
NM_001184705.3:c.709+236_709+237insCCCAAACACACCCA	NP_001171634.2:n.709+236_709+237insCCCAAACACACCCA
NM_005327.7:c.709+236_709+237insCCCAAACACACCCA MANE Select	NP_005318.6:n.709+236_709+237insCCCAAACACACCCA
NM_001184705.4:c.709+236_709+237insCCCAAACACACCCA	NP_001171634.3:n.709+236_709+237insCCCAAACACACCCA
NM_001331027.2:c.721+236_721+237insCCCAAACACACCCA	NP_001317956.2:n.721+236_721+237insCCCAAACACACCCA