Canonical Allele Identifier: CA1483969732
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108027960_108027961delinsGC , CM000666.2:g.108027960_108027961delinsGC GRCh38
NC_000004.11:g.108949116_108949117delinsGC , CM000666.1:g.108949116_108949117delinsGC GRCh37
NC_000004.10:g.109168565_109168566delinsGC NCBI36
NG_008156.2:g.43177_43178delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000507260.3:n.5119_5120delinsGC
ENST00000510728.6:n.1719_1720delinsGC
ENST00000514776.3:n.342_343delinsGC
ENST00000515462.7:n.2096_2097delinsGC
ENST00000626637.2:c.721+200_721+201delinsGC ENSP00000486771.1:n.721+200_721+201delinsGC
ENST00000638648.2:c.743_744delinsGC ENSP00000507949.1:p.Gly248=
ENST00000640201.2:n.995_996delinsGC
ENST00000640752.2:n.4919+200_4919+201delinsGC
ENST00000682067.1:c.542+200_542+201delinsGC
ENST00000682086.1:n.978_979delinsGC
ENST00000682373.1:c.368+200_368+201delinsGC
ENST00000684696.1:c.658_659delinsGC ENSP00000507675.1:p.Ala220=
ENST00000309522.8:c.709+200_709+201delinsGC MANE Select ENSP00000312288.4:n.709+200_709+201delinsGC
ENST00000403312.6:c.709+200_709+201delinsGC ENSP00000385638.3:n.709+200_709+201delinsGC
ENST00000505878.4:c.886+200_886+201delinsGC ENSP00000425952.2:n.886+200_886+201delinsGC
ENST00000514776.2:n.342_343delinsGC
ENST00000515462.6:n.2096_2097delinsGC
ENST00000638559.1:c.567+200_567+201delinsGC
ENST00000638621.1:c.295+200_295+201delinsGC ENSP00000491581.1:n.295+200_295+201delinsGC
ENST00000638648.1:n.860+200_860+201delinsGC
ENST00000639146.1:c.731_732delinsGC ENSP00000492345.1:p.Gly244=
ENST00000639335.1:c.*144+200_*144+201delinsGC ENSP00000491310.1:n.*144+200_*144+201delinsGC
ENST00000639698.1:c.516+4397_516+4398delinsGC ENSP00000492420.1:n.516+4397_516+4398delinsGC
ENST00000639784.1:c.373+4397_373+4398delinsGC
ENST00000640048.1:c.681+200_681+201delinsGC ENSP00000492009.1:n.681+200_681+201delinsGC
ENST00000640060.1:c.*804+200_*804+201delinsGC ENSP00000492734.1:n.*804+200_*804+201delinsGC
ENST00000640201.1:n.864_865delinsGC
ENST00000640752.1:n.4912+200_4912+201delinsGC
ENST00000309522.7:c.709+200_709+201delinsGC ENSP00000312288.3:n.709+200_709+201delinsGC
ENST00000403312.5:c.886+200_886+201delinsGC ENSP00000385638.2:n.886+200_886+201delinsGC
ENST00000505878.3:c.721+200_721+201delinsGC ENSP00000425952.1:n.721+200_721+201delinsGC
ENST00000510728.5:n.271_272delinsGC
ENST00000515462.5:n.246_247delinsGC
ENST00000603302.5:c.709+200_709+201delinsGC ENSP00000474560.1:n.709+200_709+201delinsGC
ENST00000626637.1:c.721+200_721+201delinsGC ENSP00000486771.1:n.721+200_721+201delinsGC
NM_001184705.2:c.709+200_709+201delinsGC NP_001171634.2:n.709+200_709+201delinsGC
NM_005327.4:c.709+200_709+201delinsGC NP_005318.3:n.709+200_709+201delinsGC
XM_005262972.1:c.721+200_721+201delinsGC XP_005263029.1:n.721+200_721+201delinsGC
XR_938726.1:n.1058_1059delinsGC
NM_001331027.1:c.721+200_721+201delinsGC NP_001317956.1:n.721+200_721+201delinsGC
XR_001741214.2:n.825_826delinsGC
XR_002959727.1:n.1003_1004delinsGC
NM_001184705.3:c.709+200_709+201delinsGC NP_001171634.2:n.709+200_709+201delinsGC
NM_005327.7:c.709+200_709+201delinsGC MANE Select NP_005318.6:n.709+200_709+201delinsGC
NM_001184705.4:c.709+200_709+201delinsGC NP_001171634.3:n.709+200_709+201delinsGC
NM_001331027.2:c.721+200_721+201delinsGC NP_001317956.2:n.721+200_721+201delinsGC