Canonical Allele Identifier: CA2687336899

Gene: CHCHD7

Linked Data

• gnomAD v4: 8-56212630-AAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56212636_56212638del , CM000670.2:g.56212636_56212638del	GRCh38
NC_000008.10:g.57125195_57125197del , CM000670.1:g.57125195_57125197del	GRCh37
NC_000008.9:g.57287749_57287751del	NCBI36
NG_023310.1:g.3668_3670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355315.8:c.-17+799_-17+801del MANE Select	ENSP00000347469.3:n.-17+799_-17+801del
ENST00000303759.3:c.-89-126_-89-124del	ENSP00000306425.3:n.-89-126_-89-124del
ENST00000355315.7:c.-17+799_-17+801del	ENSP00000347469.3:n.-17+799_-17+801del
ENST00000396723.9:c.-137-126_-137-124del	ENSP00000379949.5:n.-137-126_-137-124del
ENST00000517636.5:c.-17+462_-17+464del	ENSP00000429230.1:n.-17+462_-17+464del
ENST00000517933.5:c.-17+799_-17+801del	ENSP00000430350.1:n.-17+799_-17+801del
ENST00000518169.1:n.53-126_53-124del
ENST00000518801.5:c.-108-126_-108-124del	ENSP00000428274.1:n.-108-126_-108-124del
ENST00000521524.5:c.-108-126_-108-124del	ENSP00000430458.1:n.-108-126_-108-124del
ENST00000521831.5:c.-17+799_-17+801del	ENSP00000429635.1:n.-17+799_-17+801del
ENST00000521982.5:c.-137-126_-137-124del	ENSP00000430714.1:n.-137-126_-137-124del
ENST00000522166.1:n.848_850del
ENST00000522366.5:n.49+799_49+801del
ENST00000523061.5:c.-17+799_-17+801del	ENSP00000430882.1:n.-17+799_-17+801del
ENST00000523532.5:c.-137-126_-137-124del	ENSP00000430498.1:n.-137-126_-137-124del
ENST00000523667.5:c.-137-126_-137-124del	ENSP00000429217.1:n.-137-126_-137-124del
ENST00000523975.5:c.-108-126_-108-124del	ENSP00000428917.1:n.-108-126_-108-124del
NM_001011667.1:c.-89-126_-89-124del	NP_001011667.1:n.-89-126_-89-124del
NM_001011668.1:c.-89-126_-89-124del	NP_001011668.1:n.-89-126_-89-124del
NM_001011669.1:c.-108-126_-108-124del	NP_001011669.1:n.-108-126_-108-124del
NM_001011670.1:c.-17+799_-17+801del	NP_001011670.1:n.-17+799_-17+801del
NM_001011671.1:c.-17+799_-17+801del	NP_001011671.1:n.-17+799_-17+801del
NM_024300.3:c.-108-126_-108-124del	NP_077276.2:n.-108-126_-108-124del
XR_428340.1:n.50-126_50-124del
NM_001011667.2:c.-89-126_-89-124del	NP_001011667.1:n.-89-126_-89-124del
NM_001011668.2:c.-89-126_-89-124del	NP_001011668.1:n.-89-126_-89-124del
NM_001011669.2:c.-108-126_-108-124del	NP_001011669.1:n.-108-126_-108-124del
NM_001011670.2:c.-17+799_-17+801del	NP_001011670.1:n.-17+799_-17+801del
NM_001011671.2:c.-17+799_-17+801del	NP_001011671.1:n.-17+799_-17+801del
NM_001317858.1:c.-108-126_-108-124del	NP_001304787.1:n.-108-126_-108-124del
NM_001317859.1:c.-17+799_-17+801del	NP_001304788.1:n.-17+799_-17+801del
NM_024300.4:c.-108-126_-108-124del	NP_077276.2:n.-108-126_-108-124del
NR_133934.1:n.201-126_201-124del
NR_133935.1:n.201-126_201-124del
NR_133936.1:n.201-126_201-124del
NR_133937.1:n.200+799_200+801del
NM_001011671.3:c.-17+799_-17+801del MANE Select	NP_001011671.1:n.-17+799_-17+801del
NM_001011667.3:c.-89-126_-89-124del	NP_001011667.1:n.-89-126_-89-124del
NM_001011668.3:c.-89-126_-89-124del	NP_001011668.1:n.-89-126_-89-124del
NM_001011669.3:c.-108-126_-108-124del	NP_001011669.1:n.-108-126_-108-124del
NM_001011670.3:c.-17+799_-17+801del	NP_001011670.1:n.-17+799_-17+801del
NM_001317858.2:c.-108-126_-108-124del	NP_001304787.1:n.-108-126_-108-124del
NM_001317859.2:c.-17+799_-17+801del	NP_001304788.1:n.-17+799_-17+801del
NM_024300.5:c.-108-126_-108-124del	NP_077276.2:n.-108-126_-108-124del
NR_133934.2:n.50-126_50-124del
NR_133935.2:n.50-126_50-124del
NR_133936.2:n.50-126_50-124del
NR_133937.2:n.49+799_49+801del