Canonical Allele Identifier: CA2695234657

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878996delinsGG , CM000685.2:g.85878996delinsGG	GRCh38
NC_000023.10:g.85134001delinsGG , CM000685.1:g.85134001delinsGG	GRCh37
NC_000023.9:g.85020657delinsGG	NCBI36
NG_009874.2:g.173567delinsCC , LRG_699:g.173567delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.1578delinsCC MANE Select	ENSP00000350386.2:p.Lys526AsnfsTer8
ENST00000357749.6:c.1578delinsCC	ENSP00000350386.2:p.Lys526AsnfsTer8
ENST00000467744.2:n.127-15902delinsCC
NM_000390.2:c.1578delinsCC , LRG_699t1:c.1578delinsCC	NP_000381.1:p.Lys526AsnfsTer8
XM_006724615.2:c.1515delinsCC	XP_006724678.1:p.Lys505AsnfsTer8
XM_011530839.1:c.1134delinsCC	XP_011529141.1:p.Lys378AsnfsTer8
NM_000390.3:c.1578delinsCC	NP_000381.1:p.Lys526AsnfsTer8
NM_001320959.1:c.1134delinsCC	NP_001307888.1:p.Lys378AsnfsTer8
NM_001362517.1:c.1134delinsCC	NP_001349446.1:p.Lys378AsnfsTer8
NM_001362518.1:c.1134delinsCC	NP_001349447.1:p.Lys378AsnfsTer8
NM_001362519.1:c.1134delinsCC	NP_001349448.1:p.Lys378AsnfsTer8
XM_017029242.2:c.1578delinsCC	XP_016884731.1:p.Lys526AsnfsTer8
XM_017029246.1:c.1134delinsCC	XP_016884735.1:p.Lys378AsnfsTer8
XM_024452331.1:c.1134delinsCC	XP_024308099.1:p.Lys378AsnfsTer8
NM_000390.4:c.1578delinsCC MANE Select	NP_000381.1:p.Lys526AsnfsTer8
NM_001362518.2:c.1134delinsCC	NP_001349447.1:p.Lys378AsnfsTer8