Canonical Allele Identifier: CA2442480585

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963827_85963828delinsGT , CM000685.2:g.85963827_85963828delinsGT	GRCh38
NC_000023.10:g.85218832_85218833delinsGT , CM000685.1:g.85218832_85218833delinsGT	GRCh37
NC_000023.9:g.85105488_85105489delinsGT	NCBI36
NG_009874.2:g.88735_88736delinsAC , LRG_699:g.88735_88736delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.539_540delinsAC MANE Select	ENSP00000350386.2:p.Asn180=
ENST00000357749.6:c.539_540delinsAC	ENSP00000350386.2:p.Asn180=
ENST00000467744.2:n.126+63663_126+63664delinsAC
NM_000390.2:c.539_540delinsAC , LRG_699t1:c.539_540delinsAC	NP_000381.1:p.Asn180=
XM_006724615.2:c.476_477delinsAC	XP_006724678.1:p.Asn159=
XM_011530839.1:c.95_96delinsAC	XP_011529141.1:p.Asn32=
NM_000390.3:c.539_540delinsAC	NP_000381.1:p.Asn180=
NM_001320959.1:c.95_96delinsAC	NP_001307888.1:p.Asn32=
NM_001362517.1:c.95_96delinsAC	NP_001349446.1:p.Asn32=
NM_001362518.1:c.95_96delinsAC	NP_001349447.1:p.Asn32=
NM_001362519.1:c.95_96delinsAC	NP_001349448.1:p.Asn32=
XM_017029242.2:c.539_540delinsAC	XP_016884731.1:p.Asn180=
XM_017029246.1:c.95_96delinsAC	XP_016884735.1:p.Asn32=
XM_024452331.1:c.95_96delinsAC	XP_024308099.1:p.Asn32=
NM_000390.4:c.539_540delinsAC MANE Select	NP_000381.1:p.Asn180=
NM_001362518.2:c.95_96delinsAC	NP_001349447.1:p.Asn32=