Canonical Allele Identifier: CA3037533

Gene: HADH

Linked Data

• dbSNP Id: rs544275787
• ExAC: 4:108948815 G / GT
• gnomAD v2: 4-108948815-G-GT
• gnomAD v3: 4-108027659-G-GT
• gnomAD v4: 4-108027659-G-GT
• MyVariant Identifiers: chr4:g.108948816_108948817insT (hg19) ; chr4:g.108948815_108948816insT (hg19) ; chr4:g.108027660_108027661insT (hg38) ; chr4:g.108027659_108027660insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027665dup , CM000666.2:g.108027665dup	GRCh38
NC_000004.11:g.108948821dup , CM000666.1:g.108948821dup	GRCh37
NC_000004.10:g.109168270dup	NCBI36
NG_008156.2:g.42882dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4824dup
ENST00000510728.6:n.1602dup
ENST00000514776.3:n.47dup
ENST00000515462.7:n.1801dup
ENST00000626637.2:c.649-23dup	ENSP00000486771.1:n.649-23dup
ENST00000638648.2:c.649-23dup	ENSP00000507949.1:n.649-23dup
ENST00000640201.2:n.723-23dup
ENST00000640752.2:n.4824dup
ENST00000682067.1:c.470-23dup
ENST00000682086.1:n.683dup
ENST00000682373.1:c.296-23dup
ENST00000684696.1:c.637-274dup	ENSP00000507675.1:n.637-274dup
ENST00000309522.8:c.637-23dup MANE Select	ENSP00000312288.4:n.637-23dup
ENST00000403312.6:c.637-23dup	ENSP00000385638.3:n.637-23dup
ENST00000505878.4:c.814-23dup	ENSP00000425952.2:n.814-23dup
ENST00000514776.2:n.47dup
ENST00000515462.6:n.1801dup
ENST00000638559.1:c.495-23dup
ENST00000638621.1:c.223-23dup	ENSP00000491581.1:n.223-23dup
ENST00000638648.1:n.788-23dup
ENST00000639146.1:c.637-23dup	ENSP00000492345.1:n.637-23dup
ENST00000639335.1:c.*72-23dup	ENSP00000491310.1:n.*72-23dup
ENST00000639698.1:c.516+4102dup	ENSP00000492420.1:n.516+4102dup
ENST00000639784.1:c.373+4102dup
ENST00000640048.1:c.609-23dup	ENSP00000492009.1:n.609-23dup
ENST00000640060.1:c.*732-23dup	ENSP00000492734.1:n.*732-23dup
ENST00000640201.1:n.592-23dup
ENST00000640752.1:n.4817dup
ENST00000309522.7:c.637-23dup	ENSP00000312288.3:n.637-23dup
ENST00000403312.5:c.814-23dup	ENSP00000385638.2:n.814-23dup
ENST00000505878.3:c.649-23dup	ENSP00000425952.1:n.649-23dup
ENST00000507260.1:n.337-23dup
ENST00000510728.5:n.154dup
ENST00000603302.5:c.637-23dup	ENSP00000474560.1:n.637-23dup
ENST00000626637.1:c.649-23dup	ENSP00000486771.1:n.649-23dup
NM_001184705.2:c.637-23dup	NP_001171634.2:n.637-23dup
NM_005327.4:c.637-23dup	NP_005318.3:n.637-23dup
XM_005262972.1:c.649-23dup	XP_005263029.1:n.649-23dup
XR_938726.1:n.786-23dup
NM_001331027.1:c.649-23dup	NP_001317956.1:n.649-23dup
XR_001741214.2:n.731-23dup
XR_002959727.1:n.731-23dup
NM_001184705.3:c.637-23dup	NP_001171634.2:n.637-23dup
NM_005327.7:c.637-23dup MANE Select	NP_005318.6:n.637-23dup
NM_001184705.4:c.637-23dup	NP_001171634.3:n.637-23dup
NM_001331027.2:c.649-23dup	NP_001317956.2:n.649-23dup