Canonical Allele Identifier: CA2671694176

Gene: HADH

Linked Data

• gnomAD v4: 4-108027838-AGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027840_108027842del , CM000666.2:g.108027840_108027842del	GRCh38
NC_000004.11:g.108948996_108948998del , CM000666.1:g.108948996_108948998del	GRCh37
NC_000004.10:g.109168445_109168447del	NCBI36
NG_008156.2:g.43057_43059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4999_5001del
ENST00000510728.6:n.1697+80_1697+82del
ENST00000514776.3:n.222_224del
ENST00000515462.7:n.1976_1978del
ENST00000626637.2:c.721+80_721+82del	ENSP00000486771.1:n.721+80_721+82del
ENST00000638648.2:c.721+80_721+82del	ENSP00000507949.1:n.721+80_721+82del
ENST00000640201.2:n.875_877del
ENST00000640752.2:n.4919+80_4919+82del
ENST00000682067.1:c.542+80_542+82del
ENST00000682086.1:n.858_860del
ENST00000682373.1:c.368+80_368+82del
ENST00000684696.1:c.637-99_637-97del	ENSP00000507675.1:n.637-99_637-97del
ENST00000309522.8:c.709+80_709+82del MANE Select	ENSP00000312288.4:n.709+80_709+82del
ENST00000403312.6:c.709+80_709+82del	ENSP00000385638.3:n.709+80_709+82del
ENST00000505878.4:c.886+80_886+82del	ENSP00000425952.2:n.886+80_886+82del
ENST00000514776.2:n.222_224del
ENST00000515462.6:n.1976_1978del
ENST00000638559.1:c.567+80_567+82del
ENST00000638621.1:c.295+80_295+82del	ENSP00000491581.1:n.295+80_295+82del
ENST00000638648.1:n.860+80_860+82del
ENST00000639146.1:c.709+80_709+82del	ENSP00000492345.1:n.709+80_709+82del
ENST00000639335.1:c.*144+80_*144+82del	ENSP00000491310.1:n.*144+80_*144+82del
ENST00000639698.1:c.516+4277_516+4279del	ENSP00000492420.1:n.516+4277_516+4279del
ENST00000639784.1:c.373+4277_373+4279del
ENST00000640048.1:c.681+80_681+82del	ENSP00000492009.1:n.681+80_681+82del
ENST00000640060.1:c.*804+80_*804+82del	ENSP00000492734.1:n.*804+80_*804+82del
ENST00000640201.1:n.744_746del
ENST00000640752.1:n.4912+80_4912+82del
ENST00000309522.7:c.709+80_709+82del	ENSP00000312288.3:n.709+80_709+82del
ENST00000403312.5:c.886+80_886+82del	ENSP00000385638.2:n.886+80_886+82del
ENST00000505878.3:c.721+80_721+82del	ENSP00000425952.1:n.721+80_721+82del
ENST00000507260.1:n.489_491del
ENST00000510728.5:n.249+80_249+82del
ENST00000515462.5:n.126_128del
ENST00000603302.5:c.709+80_709+82del	ENSP00000474560.1:n.709+80_709+82del
ENST00000626637.1:c.721+80_721+82del	ENSP00000486771.1:n.721+80_721+82del
NM_001184705.2:c.709+80_709+82del	NP_001171634.2:n.709+80_709+82del
NM_005327.4:c.709+80_709+82del	NP_005318.3:n.709+80_709+82del
XM_005262972.1:c.721+80_721+82del	XP_005263029.1:n.721+80_721+82del
XR_938726.1:n.938_940del
NM_001331027.1:c.721+80_721+82del	NP_001317956.1:n.721+80_721+82del
XR_001741214.2:n.803+80_803+82del
XR_002959727.1:n.883_885del
NM_001184705.3:c.709+80_709+82del	NP_001171634.2:n.709+80_709+82del
NM_005327.7:c.709+80_709+82del MANE Select	NP_005318.6:n.709+80_709+82del
NM_001184705.4:c.709+80_709+82del	NP_001171634.3:n.709+80_709+82del
NM_001331027.2:c.721+80_721+82del	NP_001317956.2:n.721+80_721+82del