Canonical Allele Identifier: CA646266907
Gene: CELSR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109263920_109263923del , CM000663.2:g.109263920_109263923del GRCh38
NC_000001.10:g.109806542_109806545del , CM000663.1:g.109806542_109806545del GRCh37
NC_000001.9:g.109608065_109608068del NCBI36
NG_052669.1:g.19216_19219del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5001+143_5001+146del MANE Select ENSP00000271332.3:n.5001+143_5001+146del
ENST00000271332.3:c.5001+143_5001+146del ENSP00000271332.3:n.5001+143_5001+146del
NM_001408.2:c.5001+143_5001+146del NP_001399.1:n.5001+143_5001+146del
XM_005270580.3:c.5001+143_5001+146del XP_005270637.1:n.5001+143_5001+146del
NM_001408.3:c.5001+143_5001+146del MANE Select NP_001399.1:n.5001+143_5001+146del