Canonical Allele Identifier: CA1483969750

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027978_108027979delinsTG , CM000666.2:g.108027978_108027979delinsTG	GRCh38
NC_000004.11:g.108949134_108949135delinsTG , CM000666.1:g.108949134_108949135delinsTG	GRCh37
NC_000004.10:g.109168583_109168584delinsTG	NCBI36
NG_008156.2:g.43195_43196delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5137_5138delinsTG
ENST00000510728.6:n.1737_1738delinsTG
ENST00000514776.3:n.360_361delinsTG
ENST00000515462.7:n.2114_2115delinsTG
ENST00000626637.2:c.721+218_721+219delinsTG	ENSP00000486771.1:n.721+218_721+219delinsTG
ENST00000638648.2:c.*11_*12delinsTG	ENSP00000507949.1:n.*11_*12delinsTG
ENST00000640201.2:n.1013_1014delinsTG
ENST00000640752.2:n.4919+218_4919+219delinsTG
ENST00000682067.1:c.542+218_542+219delinsTG
ENST00000682086.1:n.996_997delinsTG
ENST00000682373.1:c.368+218_368+219delinsTG
ENST00000684696.1:c.676_677delinsTG	ENSP00000507675.1:p.Trp226=
ENST00000309522.8:c.709+218_709+219delinsTG MANE Select	ENSP00000312288.4:n.709+218_709+219delinsTG
ENST00000403312.6:c.709+218_709+219delinsTG	ENSP00000385638.3:n.709+218_709+219delinsTG
ENST00000505878.4:c.886+218_886+219delinsTG	ENSP00000425952.2:n.886+218_886+219delinsTG
ENST00000514776.2:n.360_361delinsTG
ENST00000515462.6:n.2114_2115delinsTG
ENST00000638559.1:c.567+218_567+219delinsTG
ENST00000638621.1:c.295+218_295+219delinsTG	ENSP00000491581.1:n.295+218_295+219delinsTG
ENST00000638648.1:n.860+218_860+219delinsTG
ENST00000639146.1:c.*11_*12delinsTG	ENSP00000492345.1:n.*11_*12delinsTG
ENST00000639335.1:c.*144+218_*144+219delinsTG	ENSP00000491310.1:n.*144+218_*144+219delinsTG
ENST00000639698.1:c.516+4415_516+4416delinsTG	ENSP00000492420.1:n.516+4415_516+4416delinsTG
ENST00000639784.1:c.373+4415_373+4416delinsTG
ENST00000640048.1:c.681+218_681+219delinsTG	ENSP00000492009.1:n.681+218_681+219delinsTG
ENST00000640060.1:c.*804+218_*804+219delinsTG	ENSP00000492734.1:n.*804+218_*804+219delinsTG
ENST00000640201.1:n.882_883delinsTG
ENST00000640752.1:n.4912+218_4912+219delinsTG
ENST00000309522.7:c.709+218_709+219delinsTG	ENSP00000312288.3:n.709+218_709+219delinsTG
ENST00000403312.5:c.886+218_886+219delinsTG	ENSP00000385638.2:n.886+218_886+219delinsTG
ENST00000505878.3:c.721+218_721+219delinsTG	ENSP00000425952.1:n.721+218_721+219delinsTG
ENST00000510728.5:n.289_290delinsTG
ENST00000515462.5:n.264_265delinsTG
ENST00000603302.5:c.709+218_709+219delinsTG	ENSP00000474560.1:n.709+218_709+219delinsTG
ENST00000626637.1:c.721+218_721+219delinsTG	ENSP00000486771.1:n.721+218_721+219delinsTG
NM_001184705.2:c.709+218_709+219delinsTG	NP_001171634.2:n.709+218_709+219delinsTG
NM_005327.4:c.709+218_709+219delinsTG	NP_005318.3:n.709+218_709+219delinsTG
XM_005262972.1:c.721+218_721+219delinsTG	XP_005263029.1:n.721+218_721+219delinsTG
XR_938726.1:n.1076_1077delinsTG
NM_001331027.1:c.721+218_721+219delinsTG	NP_001317956.1:n.721+218_721+219delinsTG
XR_001741214.2:n.843_844delinsTG
XR_002959727.1:n.1021_1022delinsTG
NM_001184705.3:c.709+218_709+219delinsTG	NP_001171634.2:n.709+218_709+219delinsTG
NM_005327.7:c.709+218_709+219delinsTG MANE Select	NP_005318.6:n.709+218_709+219delinsTG
NM_001184705.4:c.709+218_709+219delinsTG	NP_001171634.3:n.709+218_709+219delinsTG
NM_001331027.2:c.721+218_721+219delinsTG	NP_001317956.2:n.721+218_721+219delinsTG