Canonical Allele Identifier: CA916082503

Gene: CHM

Linked Data

• ClinVar Variation Id: 865840
• ClinVar RCV Id: RCV001073370
• dbSNP Id: rs1930435879

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963929_85963932del , CM000685.2:g.85963929_85963932del	GRCh38
NC_000023.10:g.85218934_85218937del , CM000685.1:g.85218934_85218937del	GRCh37
NC_000023.9:g.85105590_85105593del	NCBI36
NG_009874.2:g.88632_88635del , LRG_699:g.88632_88635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.436_439del MANE Select	ENSP00000350386.2:p.Leu146AlafsTer3
ENST00000357749.6:c.436_439del	ENSP00000350386.2:p.Leu146AlafsTer3
ENST00000467744.2:n.126+63560_126+63563del
NM_000390.2:c.436_439del , LRG_699t1:c.436_439del	NP_000381.1:p.Leu146AlafsTer3
XM_006724615.2:c.373_376del	XP_006724678.1:p.Leu125AlafsTer3
XM_011530839.1:c.-9_-6del	XP_011529141.1:n.-9_-6del
NM_000390.3:c.436_439del	NP_000381.1:p.Leu146AlafsTer3
NM_001320959.1:c.-9_-6del	NP_001307888.1:n.-9_-6del
NM_001362517.1:c.-9_-6del	NP_001349446.1:n.-9_-6del
NM_001362518.1:c.-9_-6del	NP_001349447.1:n.-9_-6del
NM_001362519.1:c.-9_-6del	NP_001349448.1:n.-9_-6del
XM_017029242.2:c.436_439del	XP_016884731.1:p.Leu146AlafsTer3
XM_017029246.1:c.-9_-6del	XP_016884735.1:n.-9_-6del
XM_024452331.1:c.-9_-6del	XP_024308099.1:n.-9_-6del
NM_000390.4:c.436_439del MANE Select	NP_000381.1:p.Leu146AlafsTer3
NM_001362518.2:c.-9_-6del	NP_001349447.1:n.-9_-6del