Canonical Allele Identifier: CA2780425719

Gene: CHCHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56212695_56212696insAC , CM000670.2:g.56212695_56212696insAC	GRCh38
NC_000008.10:g.57125254_57125255insAC , CM000670.1:g.57125254_57125255insAC	GRCh37
NC_000008.9:g.57287808_57287809insAC	NCBI36
NG_023310.1:g.3605_3606insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355315.8:c.-17+858_-17+859insAC MANE Select	ENSP00000347469.3:n.-17+858_-17+859insAC
ENST00000303759.3:c.-89-67_-89-66insAC	ENSP00000306425.3:n.-89-67_-89-66insAC
ENST00000355315.7:c.-17+858_-17+859insAC	ENSP00000347469.3:n.-17+858_-17+859insAC
ENST00000396723.9:c.-137-67_-137-66insAC	ENSP00000379949.5:n.-137-67_-137-66insAC
ENST00000517636.5:c.-17+521_-17+522insAC	ENSP00000429230.1:n.-17+521_-17+522insAC
ENST00000517933.5:c.-17+858_-17+859insAC	ENSP00000430350.1:n.-17+858_-17+859insAC
ENST00000518169.1:n.53-67_53-66insAC
ENST00000518801.5:c.-108-67_-108-66insAC	ENSP00000428274.1:n.-108-67_-108-66insAC
ENST00000521524.5:c.-108-67_-108-66insAC	ENSP00000430458.1:n.-108-67_-108-66insAC
ENST00000521831.5:c.-17+858_-17+859insAC	ENSP00000429635.1:n.-17+858_-17+859insAC
ENST00000521982.5:c.-137-67_-137-66insAC	ENSP00000430714.1:n.-137-67_-137-66insAC
ENST00000522166.1:n.907_908insAC
ENST00000522366.5:n.49+858_49+859insAC
ENST00000523061.5:c.-17+858_-17+859insAC	ENSP00000430882.1:n.-17+858_-17+859insAC
ENST00000523532.5:c.-137-67_-137-66insAC	ENSP00000430498.1:n.-137-67_-137-66insAC
ENST00000523667.5:c.-137-67_-137-66insAC	ENSP00000429217.1:n.-137-67_-137-66insAC
ENST00000523975.5:c.-108-67_-108-66insAC	ENSP00000428917.1:n.-108-67_-108-66insAC
NM_001011667.1:c.-89-67_-89-66insAC	NP_001011667.1:n.-89-67_-89-66insAC
NM_001011668.1:c.-89-67_-89-66insAC	NP_001011668.1:n.-89-67_-89-66insAC
NM_001011669.1:c.-108-67_-108-66insAC	NP_001011669.1:n.-108-67_-108-66insAC
NM_001011670.1:c.-17+858_-17+859insAC	NP_001011670.1:n.-17+858_-17+859insAC
NM_001011671.1:c.-17+858_-17+859insAC	NP_001011671.1:n.-17+858_-17+859insAC
NM_024300.3:c.-108-67_-108-66insAC	NP_077276.2:n.-108-67_-108-66insAC
XR_428340.1:n.50-67_50-66insAC
NM_001011667.2:c.-89-67_-89-66insAC	NP_001011667.1:n.-89-67_-89-66insAC
NM_001011668.2:c.-89-67_-89-66insAC	NP_001011668.1:n.-89-67_-89-66insAC
NM_001011669.2:c.-108-67_-108-66insAC	NP_001011669.1:n.-108-67_-108-66insAC
NM_001011670.2:c.-17+858_-17+859insAC	NP_001011670.1:n.-17+858_-17+859insAC
NM_001011671.2:c.-17+858_-17+859insAC	NP_001011671.1:n.-17+858_-17+859insAC
NM_001317858.1:c.-108-67_-108-66insAC	NP_001304787.1:n.-108-67_-108-66insAC
NM_001317859.1:c.-17+858_-17+859insAC	NP_001304788.1:n.-17+858_-17+859insAC
NM_024300.4:c.-108-67_-108-66insAC	NP_077276.2:n.-108-67_-108-66insAC
NR_133934.1:n.201-67_201-66insAC
NR_133935.1:n.201-67_201-66insAC
NR_133936.1:n.201-67_201-66insAC
NR_133937.1:n.200+858_200+859insAC
NM_001011671.3:c.-17+858_-17+859insAC MANE Select	NP_001011671.1:n.-17+858_-17+859insAC
NM_001011667.3:c.-89-67_-89-66insAC	NP_001011667.1:n.-89-67_-89-66insAC
NM_001011668.3:c.-89-67_-89-66insAC	NP_001011668.1:n.-89-67_-89-66insAC
NM_001011669.3:c.-108-67_-108-66insAC	NP_001011669.1:n.-108-67_-108-66insAC
NM_001011670.3:c.-17+858_-17+859insAC	NP_001011670.1:n.-17+858_-17+859insAC
NM_001317858.2:c.-108-67_-108-66insAC	NP_001304787.1:n.-108-67_-108-66insAC
NM_001317859.2:c.-17+858_-17+859insAC	NP_001304788.1:n.-17+858_-17+859insAC
NM_024300.5:c.-108-67_-108-66insAC	NP_077276.2:n.-108-67_-108-66insAC
NR_133934.2:n.50-67_50-66insAC
NR_133935.2:n.50-67_50-66insAC
NR_133936.2:n.50-67_50-66insAC
NR_133937.2:n.49+858_49+859insAC