Canonical Allele Identifier: CA2442480634

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963967_85963981delinsCAGCTTCTGTGGAGT , CM000685.2:g.85963967_85963981delinsCAGCTTCTGTGGAGT	GRCh38
NC_000023.10:g.85218972_85218986delinsCAGCTTCTGTGGAGT , CM000685.1:g.85218972_85218986delinsCAGCTTCTGTGGAGT	GRCh37
NC_000023.9:g.85105628_85105642delinsCAGCTTCTGTGGAGT	NCBI36
NG_009874.2:g.88582_88596delinsACTCCACAGAAGCTG , LRG_699:g.88582_88596delinsACTCCACAGAAGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.386_400delinsACTCCACAGAAGCTG MANE Select	ENSP00000350386.2:p.Asn129=
ENST00000357749.6:c.386_400delinsACTCCACAGAAGCTG	ENSP00000350386.2:p.Asn129=
ENST00000467744.2:n.126+63510_126+63524delinsACTCCACAGAAGCTG
NM_000390.2:c.386_400delinsACTCCACAGAAGCTG , LRG_699t1:c.386_400delinsACTCCACAGAAGCTG	NP_000381.1:p.Asn129=
XM_006724615.2:c.323_337delinsACTCCACAGAAGCTG	XP_006724678.1:p.Asn108=
XM_011530839.1:c.-59_-45delinsACTCCACAGAAGCTG	XP_011529141.1:n.-59_-45delinsACTCCACAGAAGCTG
NM_000390.3:c.386_400delinsACTCCACAGAAGCTG	NP_000381.1:p.Asn129=
NM_001320959.1:c.-59_-45delinsACTCCACAGAAGCTG	NP_001307888.1:n.-59_-45delinsACTCCACAGAAGCTG
NM_001362517.1:c.-59_-45delinsACTCCACAGAAGCTG	NP_001349446.1:n.-59_-45delinsACTCCACAGAAGCTG
NM_001362518.1:c.-59_-45delinsACTCCACAGAAGCTG	NP_001349447.1:n.-59_-45delinsACTCCACAGAAGCTG
NM_001362519.1:c.-59_-45delinsACTCCACAGAAGCTG	NP_001349448.1:n.-59_-45delinsACTCCACAGAAGCTG
XM_017029242.2:c.386_400delinsACTCCACAGAAGCTG	XP_016884731.1:p.Asn129=
XM_017029246.1:c.-59_-45delinsACTCCACAGAAGCTG	XP_016884735.1:n.-59_-45delinsACTCCACAGAAGCTG
XM_024452331.1:c.-59_-45delinsACTCCACAGAAGCTG	XP_024308099.1:n.-59_-45delinsACTCCACAGAAGCTG
NM_000390.4:c.386_400delinsACTCCACAGAAGCTG MANE Select	NP_000381.1:p.Asn129=
NM_001362518.2:c.-59_-45delinsACTCCACAGAAGCTG	NP_001349447.1:n.-59_-45delinsACTCCACAGAAGCTG