Canonical Allele Identifier: CA642996697

Gene: CHM

Linked Data

• dbSNP Id: rs1377539233
• gnomAD v2: X-85211032-AAATAG-A
• gnomAD v3: X-85956027-AAATAG-A
• gnomAD v4: X-85956027-AAATAG-A
• MyVariant Identifiers: chrX:g.85211033_85211037del (hg19) ; chrX:g.85956028_85956032del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956032_85956036del , CM000685.2:g.85956032_85956036del	GRCh38
NC_000023.10:g.85211037_85211041del , CM000685.1:g.85211037_85211041del	GRCh37
NC_000023.9:g.85097693_85097697del	NCBI36
NG_009874.2:g.96531_96535del , LRG_699:g.96531_96535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1166+121_1166+125del MANE Select	ENSP00000350386.2:n.1166+121_1166+125del
ENST00000357749.6:c.1166+121_1166+125del	ENSP00000350386.2:n.1166+121_1166+125del
ENST00000467744.2:n.126+71459_126+71463del
NM_000390.2:c.1166+121_1166+125del , LRG_699t1:c.1166+121_1166+125del	NP_000381.1:n.1166+121_1166+125del
XM_006724615.2:c.1103+121_1103+125del	XP_006724678.1:n.1103+121_1103+125del
XM_011530839.1:c.722+121_722+125del	XP_011529141.1:n.722+121_722+125del
NM_000390.3:c.1166+121_1166+125del	NP_000381.1:n.1166+121_1166+125del
NM_001320959.1:c.722+121_722+125del	NP_001307888.1:n.722+121_722+125del
NM_001362517.1:c.722+121_722+125del	NP_001349446.1:n.722+121_722+125del
NM_001362518.1:c.722+121_722+125del	NP_001349447.1:n.722+121_722+125del
NM_001362519.1:c.722+121_722+125del	NP_001349448.1:n.722+121_722+125del
XM_017029242.2:c.1166+121_1166+125del	XP_016884731.1:n.1166+121_1166+125del
XM_017029246.1:c.722+121_722+125del	XP_016884735.1:n.722+121_722+125del
XM_024452331.1:c.722+121_722+125del	XP_024308099.1:n.722+121_722+125del
NM_000390.4:c.1166+121_1166+125del MANE Select	NP_000381.1:n.1166+121_1166+125del
NM_001362518.2:c.722+121_722+125del	NP_001349447.1:n.722+121_722+125del