Canonical Allele Identifier: CA2671694311

Gene: HADH

Linked Data

• gnomAD v4: 4-108027953-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027954_108027955del , CM000666.2:g.108027954_108027955del	GRCh38
NC_000004.11:g.108949110_108949111del , CM000666.1:g.108949110_108949111del	GRCh37
NC_000004.10:g.109168559_109168560del	NCBI36
NG_008156.2:g.43171_43172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5113_5114del
ENST00000510728.6:n.1713_1714del
ENST00000514776.3:n.336_337del
ENST00000515462.7:n.2090_2091del
ENST00000626637.2:c.721+194_721+195del	ENSP00000486771.1:n.721+194_721+195del
ENST00000638648.2:c.737_738del	ENSP00000507949.1:p.Pro246ArgfsTer?
ENST00000640201.2:n.989_990del
ENST00000640752.2:n.4919+194_4919+195del
ENST00000682067.1:c.542+194_542+195del
ENST00000682086.1:n.972_973del
ENST00000682373.1:c.368+194_368+195del
ENST00000684696.1:c.652_653del	ENSP00000507675.1:p.Leu218ValfsTer4
ENST00000309522.8:c.709+194_709+195del MANE Select	ENSP00000312288.4:n.709+194_709+195del
ENST00000403312.6:c.709+194_709+195del	ENSP00000385638.3:n.709+194_709+195del
ENST00000505878.4:c.886+194_886+195del	ENSP00000425952.2:n.886+194_886+195del
ENST00000514776.2:n.336_337del
ENST00000515462.6:n.2090_2091del
ENST00000638559.1:c.567+194_567+195del
ENST00000638621.1:c.295+194_295+195del	ENSP00000491581.1:n.295+194_295+195del
ENST00000638648.1:n.860+194_860+195del
ENST00000639146.1:c.725_726del	ENSP00000492345.1:p.Pro242ArgfsTer?
ENST00000639335.1:c.*144+194_*144+195del	ENSP00000491310.1:n.*144+194_*144+195del
ENST00000639698.1:c.516+4391_516+4392del	ENSP00000492420.1:n.516+4391_516+4392del
ENST00000639784.1:c.373+4391_373+4392del
ENST00000640048.1:c.681+194_681+195del	ENSP00000492009.1:n.681+194_681+195del
ENST00000640060.1:c.*804+194_*804+195del	ENSP00000492734.1:n.*804+194_*804+195del
ENST00000640201.1:n.858_859del
ENST00000640752.1:n.4912+194_4912+195del
ENST00000309522.7:c.709+194_709+195del	ENSP00000312288.3:n.709+194_709+195del
ENST00000403312.5:c.886+194_886+195del	ENSP00000385638.2:n.886+194_886+195del
ENST00000505878.3:c.721+194_721+195del	ENSP00000425952.1:n.721+194_721+195del
ENST00000510728.5:n.265_266del
ENST00000515462.5:n.240_241del
ENST00000603302.5:c.709+194_709+195del	ENSP00000474560.1:n.709+194_709+195del
ENST00000626637.1:c.721+194_721+195del	ENSP00000486771.1:n.721+194_721+195del
NM_001184705.2:c.709+194_709+195del	NP_001171634.2:n.709+194_709+195del
NM_005327.4:c.709+194_709+195del	NP_005318.3:n.709+194_709+195del
XM_005262972.1:c.721+194_721+195del	XP_005263029.1:n.721+194_721+195del
XR_938726.1:n.1052_1053del
NM_001331027.1:c.721+194_721+195del	NP_001317956.1:n.721+194_721+195del
XR_001741214.2:n.819_820del
XR_002959727.1:n.997_998del
NM_001184705.3:c.709+194_709+195del	NP_001171634.2:n.709+194_709+195del
NM_005327.7:c.709+194_709+195del MANE Select	NP_005318.6:n.709+194_709+195del
NM_001184705.4:c.709+194_709+195del	NP_001171634.3:n.709+194_709+195del
NM_001331027.2:c.721+194_721+195del	NP_001317956.2:n.721+194_721+195del