Canonical Allele Identifier: CA2671694043

Gene: HADH

Linked Data

• gnomAD v4: 4-108027788-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027789_108027790del , CM000666.2:g.108027789_108027790del	GRCh38
NC_000004.11:g.108948945_108948946del , CM000666.1:g.108948945_108948946del	GRCh37
NC_000004.10:g.109168394_109168395del	NCBI36
NG_008156.2:g.43006_43007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4948_4949del
ENST00000510728.6:n.1697+29_1697+30del
ENST00000514776.3:n.171_172del
ENST00000515462.7:n.1925_1926del
ENST00000626637.2:c.721+29_721+30del	ENSP00000486771.1:n.721+29_721+30del
ENST00000638648.2:c.721+29_721+30del	ENSP00000507949.1:n.721+29_721+30del
ENST00000640201.2:n.824_825del
ENST00000640752.2:n.4919+29_4919+30del
ENST00000682067.1:c.542+29_542+30del
ENST00000682086.1:n.807_808del
ENST00000682373.1:c.368+29_368+30del
ENST00000684696.1:c.637-150_637-149del	ENSP00000507675.1:n.637-150_637-149del
ENST00000309522.8:c.709+29_709+30del MANE Select	ENSP00000312288.4:n.709+29_709+30del
ENST00000403312.6:c.709+29_709+30del	ENSP00000385638.3:n.709+29_709+30del
ENST00000505878.4:c.886+29_886+30del	ENSP00000425952.2:n.886+29_886+30del
ENST00000514776.2:n.171_172del
ENST00000515462.6:n.1925_1926del
ENST00000638559.1:c.567+29_567+30del
ENST00000638621.1:c.295+29_295+30del	ENSP00000491581.1:n.295+29_295+30del
ENST00000638648.1:n.860+29_860+30del
ENST00000639146.1:c.709+29_709+30del	ENSP00000492345.1:n.709+29_709+30del
ENST00000639335.1:c.*144+29_*144+30del	ENSP00000491310.1:n.*144+29_*144+30del
ENST00000639698.1:c.516+4226_516+4227del	ENSP00000492420.1:n.516+4226_516+4227del
ENST00000639784.1:c.373+4226_373+4227del
ENST00000640048.1:c.681+29_681+30del	ENSP00000492009.1:n.681+29_681+30del
ENST00000640060.1:c.*804+29_*804+30del	ENSP00000492734.1:n.*804+29_*804+30del
ENST00000640201.1:n.693_694del
ENST00000640752.1:n.4912+29_4912+30del
ENST00000309522.7:c.709+29_709+30del	ENSP00000312288.3:n.709+29_709+30del
ENST00000403312.5:c.886+29_886+30del	ENSP00000385638.2:n.886+29_886+30del
ENST00000505878.3:c.721+29_721+30del	ENSP00000425952.1:n.721+29_721+30del
ENST00000507260.1:n.438_439del
ENST00000510728.5:n.249+29_249+30del
ENST00000515462.5:n.75_76del
ENST00000603302.5:c.709+29_709+30del	ENSP00000474560.1:n.709+29_709+30del
ENST00000626637.1:c.721+29_721+30del	ENSP00000486771.1:n.721+29_721+30del
NM_001184705.2:c.709+29_709+30del	NP_001171634.2:n.709+29_709+30del
NM_005327.4:c.709+29_709+30del	NP_005318.3:n.709+29_709+30del
XM_005262972.1:c.721+29_721+30del	XP_005263029.1:n.721+29_721+30del
XR_938726.1:n.887_888del
NM_001331027.1:c.721+29_721+30del	NP_001317956.1:n.721+29_721+30del
XR_001741214.2:n.803+29_803+30del
XR_002959727.1:n.832_833del
NM_001184705.3:c.709+29_709+30del	NP_001171634.2:n.709+29_709+30del
NM_005327.7:c.709+29_709+30del MANE Select	NP_005318.6:n.709+29_709+30del
NM_001184705.4:c.709+29_709+30del	NP_001171634.3:n.709+29_709+30del
NM_001331027.2:c.721+29_721+30del	NP_001317956.2:n.721+29_721+30del