Canonical Allele Identifier: CA517491346
Gene: CHM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85879069_85879070insT , CM000685.2:g.85879069_85879070insT GRCh38
NC_000023.10:g.85134074_85134075insT , CM000685.1:g.85134074_85134075insT GRCh37
NC_000023.9:g.85020730_85020731insT NCBI36
NG_009874.2:g.173493_173494insA , LRG_699:g.173493_173494insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.1511-7_1511-6insA MANE Select ENSP00000350386.2:n.1511-7_1511-6insA
ENST00000357749.6:c.1511-7_1511-6insA ENSP00000350386.2:n.1511-7_1511-6insA
ENST00000467744.2:n.127-15976_127-15975insA
NM_000390.2:c.1511-7_1511-6insA , LRG_699t1:c.1511-7_1511-6insA NP_000381.1:n.1511-7_1511-6insA
XM_006724615.2:c.1448-7_1448-6insA XP_006724678.1:n.1448-7_1448-6insA
XM_011530839.1:c.1067-7_1067-6insA XP_011529141.1:n.1067-7_1067-6insA
NM_000390.3:c.1511-7_1511-6insA NP_000381.1:n.1511-7_1511-6insA
NM_001320959.1:c.1067-7_1067-6insA NP_001307888.1:n.1067-7_1067-6insA
NM_001362517.1:c.1067-7_1067-6insA NP_001349446.1:n.1067-7_1067-6insA
NM_001362518.1:c.1067-7_1067-6insA NP_001349447.1:n.1067-7_1067-6insA
NM_001362519.1:c.1067-7_1067-6insA NP_001349448.1:n.1067-7_1067-6insA
XM_017029242.2:c.1511-7_1511-6insA XP_016884731.1:n.1511-7_1511-6insA
XM_017029246.1:c.1067-7_1067-6insA XP_016884735.1:n.1067-7_1067-6insA
XM_024452331.1:c.1067-7_1067-6insA XP_024308099.1:n.1067-7_1067-6insA
NM_000390.4:c.1511-7_1511-6insA MANE Select NP_000381.1:n.1511-7_1511-6insA
NM_001362518.2:c.1067-7_1067-6insA NP_001349447.1:n.1067-7_1067-6insA