Canonical Allele Identifier: CA2695234674

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956299_85956300delinsGTC , CM000685.2:g.85956299_85956300delinsGTC	GRCh38
NC_000023.10:g.85211304_85211305delinsGTC , CM000685.1:g.85211304_85211305delinsGTC	GRCh37
NC_000023.9:g.85097960_85097961delinsGTC	NCBI36
NG_009874.2:g.96263_96264delinsGAC , LRG_699:g.96263_96264delinsGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.1019_1020delinsGAC MANE Select	ENSP00000350386.2:p.Ser340Ter
ENST00000357749.6:c.1019_1020delinsGAC	ENSP00000350386.2:p.Ser340Ter
ENST00000467744.2:n.126+71191_126+71192delinsGAC
NM_000390.2:c.1019_1020delinsGAC , LRG_699t1:c.1019_1020delinsGAC	NP_000381.1:p.Ser340Ter
XM_006724615.2:c.956_957delinsGAC	XP_006724678.1:p.Ser319Ter
XM_011530839.1:c.575_576delinsGAC	XP_011529141.1:p.Ser192Ter
NM_000390.3:c.1019_1020delinsGAC	NP_000381.1:p.Ser340Ter
NM_001320959.1:c.575_576delinsGAC	NP_001307888.1:p.Ser192Ter
NM_001362517.1:c.575_576delinsGAC	NP_001349446.1:p.Ser192Ter
NM_001362518.1:c.575_576delinsGAC	NP_001349447.1:p.Ser192Ter
NM_001362519.1:c.575_576delinsGAC	NP_001349448.1:p.Ser192Ter
XM_017029242.2:c.1019_1020delinsGAC	XP_016884731.1:p.Ser340Ter
XM_017029246.1:c.575_576delinsGAC	XP_016884735.1:p.Ser192Ter
XM_024452331.1:c.575_576delinsGAC	XP_024308099.1:p.Ser192Ter
NM_000390.4:c.1019_1020delinsGAC MANE Select	NP_000381.1:p.Ser340Ter
NM_001362518.2:c.575_576delinsGAC	NP_001349447.1:p.Ser192Ter