Canonical Allele Identifier: CA2822218786

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956317_85956318insACA , CM000685.2:g.85956317_85956318insACA	GRCh38
NC_000023.10:g.85211322_85211323insACA , CM000685.1:g.85211322_85211323insACA	GRCh37
NC_000023.9:g.85097978_85097979insACA	NCBI36
NG_009874.2:g.96245_96246insTGT , LRG_699:g.96245_96246insTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.1001_1002insTGT MANE Select	ENSP00000350386.2:p.Gln334delinsHisVal
ENST00000357749.6:c.1001_1002insTGT	ENSP00000350386.2:p.Gln334delinsHisVal
ENST00000467744.2:n.126+71173_126+71174insTGT
NM_000390.2:c.1001_1002insTGT , LRG_699t1:c.1001_1002insTGT	NP_000381.1:p.Gln334delinsHisVal
XM_006724615.2:c.938_939insTGT	XP_006724678.1:p.Gln313delinsHisVal
XM_011530839.1:c.557_558insTGT	XP_011529141.1:p.Gln186delinsHisVal
NM_000390.3:c.1001_1002insTGT	NP_000381.1:p.Gln334delinsHisVal
NM_001320959.1:c.557_558insTGT	NP_001307888.1:p.Gln186delinsHisVal
NM_001362517.1:c.557_558insTGT	NP_001349446.1:p.Gln186delinsHisVal
NM_001362518.1:c.557_558insTGT	NP_001349447.1:p.Gln186delinsHisVal
NM_001362519.1:c.557_558insTGT	NP_001349448.1:p.Gln186delinsHisVal
XM_017029242.2:c.1001_1002insTGT	XP_016884731.1:p.Gln334delinsHisVal
XM_017029246.1:c.557_558insTGT	XP_016884735.1:p.Gln186delinsHisVal
XM_024452331.1:c.557_558insTGT	XP_024308099.1:p.Gln186delinsHisVal
NM_000390.4:c.1001_1002insTGT MANE Select	NP_000381.1:p.Gln334delinsHisVal
NM_001362518.2:c.557_558insTGT	NP_001349447.1:p.Gln186delinsHisVal