Canonical Allele Identifier: CA1134967179

Gene: CHM

Linked Data

• dbSNP Id: rs1777548422
• gnomAD v3: X-85878801-CAT-C
• gnomAD v4: X-85878801-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878802_85878803del , CM000685.2:g.85878802_85878803del	GRCh38
NC_000023.10:g.85133807_85133808del , CM000685.1:g.85133807_85133808del	GRCh37
NC_000023.9:g.85020463_85020464del	NCBI36
NG_009874.2:g.173760_173761del , LRG_699:g.173760_173761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1609+162_1609+163del MANE Select	ENSP00000350386.2:n.1609+162_1609+163del
ENST00000357749.6:c.1609+162_1609+163del	ENSP00000350386.2:n.1609+162_1609+163del
ENST00000467744.2:n.127-15709_127-15708del
NM_000390.2:c.1609+162_1609+163del , LRG_699t1:c.1609+162_1609+163del	NP_000381.1:n.1609+162_1609+163del
XM_006724615.2:c.1546+162_1546+163del	XP_006724678.1:n.1546+162_1546+163del
XM_011530839.1:c.1165+162_1165+163del	XP_011529141.1:n.1165+162_1165+163del
NM_000390.3:c.1609+162_1609+163del	NP_000381.1:n.1609+162_1609+163del
NM_001320959.1:c.1165+162_1165+163del	NP_001307888.1:n.1165+162_1165+163del
NM_001362517.1:c.1165+162_1165+163del	NP_001349446.1:n.1165+162_1165+163del
NM_001362518.1:c.1165+162_1165+163del	NP_001349447.1:n.1165+162_1165+163del
NM_001362519.1:c.1165+162_1165+163del	NP_001349448.1:n.1165+162_1165+163del
XM_017029242.2:c.1609+162_1609+163del	XP_016884731.1:n.1609+162_1609+163del
XM_017029246.1:c.1165+162_1165+163del	XP_016884735.1:n.1165+162_1165+163del
XM_024452331.1:c.1165+162_1165+163del	XP_024308099.1:n.1165+162_1165+163del
NM_000390.4:c.1609+162_1609+163del MANE Select	NP_000381.1:n.1609+162_1609+163del
NM_001362518.2:c.1165+162_1165+163del	NP_001349447.1:n.1165+162_1165+163del