Canonical Allele Identifier: CA2694202060

Gene: CHM

Linked Data

• gnomAD v4: X-85879062-ATCTGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879063_85879068del , CM000685.2:g.85879063_85879068del	GRCh38
NC_000023.10:g.85134068_85134073del , CM000685.1:g.85134068_85134073del	GRCh37
NC_000023.9:g.85020724_85020729del	NCBI36
NG_009874.2:g.173495_173500del , LRG_699:g.173495_173500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1511-5_1511del
ENST00000357749.6:c.1511-5_1511del
ENST00000467744.2:n.127-15974_127-15969del
NM_000390.2:c.1511-5_1511del , LRG_699t1:c.1511-5_1511del
XM_006724615.2:c.1448-5_1448del
XM_011530839.1:c.1067-5_1067del
NM_000390.3:c.1511-5_1511del
NM_001320959.1:c.1067-5_1067del
NM_001362517.1:c.1067-5_1067del
NM_001362518.1:c.1067-5_1067del
NM_001362519.1:c.1067-5_1067del
XM_017029242.2:c.1511-5_1511del
XM_017029246.1:c.1067-5_1067del
XM_024452331.1:c.1067-5_1067del
NM_000390.4:c.1511-5_1511del
NM_001362518.2:c.1067-5_1067del