Canonical Allele Identifier: CA1134992664

Gene: CHM

Linked Data

• dbSNP Id: rs1930167702
• gnomAD v3: X-85959237-CTTTG-C
• gnomAD v4: X-85959237-CTTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85959243_85959246del , CM000685.2:g.85959243_85959246del	GRCh38
NC_000023.10:g.85214248_85214251del , CM000685.1:g.85214248_85214251del	GRCh37
NC_000023.9:g.85100904_85100907del	NCBI36
NG_009874.2:g.93322_93325del , LRG_699:g.93322_93325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.703-264_703-261del MANE Select	ENSP00000350386.2:n.703-264_703-261del
ENST00000357749.6:c.703-264_703-261del	ENSP00000350386.2:n.703-264_703-261del
ENST00000467744.2:n.126+68250_126+68253del
NM_000390.2:c.703-264_703-261del , LRG_699t1:c.703-264_703-261del	NP_000381.1:n.703-264_703-261del
XM_006724615.2:c.640-264_640-261del	XP_006724678.1:n.640-264_640-261del
XM_011530839.1:c.259-264_259-261del	XP_011529141.1:n.259-264_259-261del
NM_000390.3:c.703-264_703-261del	NP_000381.1:n.703-264_703-261del
NM_001320959.1:c.259-264_259-261del	NP_001307888.1:n.259-264_259-261del
NM_001362517.1:c.259-264_259-261del	NP_001349446.1:n.259-264_259-261del
NM_001362518.1:c.259-264_259-261del	NP_001349447.1:n.259-264_259-261del
NM_001362519.1:c.259-264_259-261del	NP_001349448.1:n.259-264_259-261del
XM_017029242.2:c.703-264_703-261del	XP_016884731.1:n.703-264_703-261del
XM_017029246.1:c.259-264_259-261del	XP_016884735.1:n.259-264_259-261del
XM_024452331.1:c.259-264_259-261del	XP_024308099.1:n.259-264_259-261del
NM_000390.4:c.703-264_703-261del MANE Select	NP_000381.1:n.703-264_703-261del
NM_001362518.2:c.259-264_259-261del	NP_001349447.1:n.259-264_259-261del