Canonical Allele Identifier: CA2694203969

Gene: CHM

Linked Data

• gnomAD v4: X-85963689-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963692_85963694del , CM000685.2:g.85963692_85963694del	GRCh38
NC_000023.10:g.85218697_85218699del , CM000685.1:g.85218697_85218699del	GRCh37
NC_000023.9:g.85105353_85105355del	NCBI36
NG_009874.2:g.88871_88873del , LRG_699:g.88871_88873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.675_677del MANE Select	ENSP00000350386.2:p.Arg226del
ENST00000357749.6:c.675_677del	ENSP00000350386.2:p.Arg226del
ENST00000467744.2:n.126+63799_126+63801del
NM_000390.2:c.675_677del , LRG_699t1:c.675_677del	NP_000381.1:p.Arg226del
XM_006724615.2:c.612_614del	XP_006724678.1:p.Arg205del
XM_011530839.1:c.231_233del	XP_011529141.1:p.Arg78del
NM_000390.3:c.675_677del	NP_000381.1:p.Arg226del
NM_001320959.1:c.231_233del	NP_001307888.1:p.Arg78del
NM_001362517.1:c.231_233del	NP_001349446.1:p.Arg78del
NM_001362518.1:c.231_233del	NP_001349447.1:p.Arg78del
NM_001362519.1:c.231_233del	NP_001349448.1:p.Arg78del
XM_017029242.2:c.675_677del	XP_016884731.1:p.Arg226del
XM_017029246.1:c.231_233del	XP_016884735.1:p.Arg78del
XM_024452331.1:c.231_233del	XP_024308099.1:p.Arg78del
NM_000390.4:c.675_677del MANE Select	NP_000381.1:p.Arg226del
NM_001362518.2:c.231_233del	NP_001349447.1:p.Arg78del