Canonical Allele Identifier: CA2442480505
Gene: CHM HGNC NCBI

Linked Data

dbSNP Id: rs1930405882

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85963576_85963578dup , CM000685.2:g.85963576_85963578dup GRCh38
NC_000023.10:g.85218581_85218583dup , CM000685.1:g.85218581_85218583dup GRCh37
NC_000023.9:g.85105237_85105239dup NCBI36
NG_009874.2:g.88985_88987dup , LRG_699:g.88985_88987dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.702+87_702+89dup MANE Select ENSP00000350386.2:n.702+87_702+89dup
ENST00000357749.6:c.702+87_702+89dup ENSP00000350386.2:n.702+87_702+89dup
ENST00000467744.2:n.126+63913_126+63915dup
NM_000390.2:c.702+87_702+89dup , LRG_699t1:c.702+87_702+89dup NP_000381.1:n.702+87_702+89dup
XM_006724615.2:c.639+87_639+89dup XP_006724678.1:n.639+87_639+89dup
XM_011530839.1:c.258+87_258+89dup XP_011529141.1:n.258+87_258+89dup
NM_000390.3:c.702+87_702+89dup NP_000381.1:n.702+87_702+89dup
NM_001320959.1:c.258+87_258+89dup NP_001307888.1:n.258+87_258+89dup
NM_001362517.1:c.258+87_258+89dup NP_001349446.1:n.258+87_258+89dup
NM_001362518.1:c.258+87_258+89dup NP_001349447.1:n.258+87_258+89dup
NM_001362519.1:c.258+87_258+89dup NP_001349448.1:n.258+87_258+89dup
XM_017029242.2:c.702+87_702+89dup XP_016884731.1:n.702+87_702+89dup
XM_017029246.1:c.258+87_258+89dup XP_016884735.1:n.258+87_258+89dup
XM_024452331.1:c.258+87_258+89dup XP_024308099.1:n.258+87_258+89dup
NM_000390.4:c.702+87_702+89dup MANE Select NP_000381.1:n.702+87_702+89dup
NM_001362518.2:c.258+87_258+89dup NP_001349447.1:n.258+87_258+89dup