Canonical Allele Identifier: CA12258290
Gene: FRMD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.168083405A>G , CM000668.2:g.168083405A>G GRCh38
NC_000006.11:g.168484085A>G , CM000668.1:g.168484085A>G GRCh37
NC_000006.10:g.168226934A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000644440.1:c.-11-4381T>C ENSP00000496464.1:n.-11-4381T>C
ENST00000646385.1:c.-324-1543T>C ENSP00000494166.1:n.-324-1543T>C
XM_011536136.1:c.-324-1543T>C XP_011534438.1:n.-324-1543T>C
XM_011536138.1:c.11-4381T>C XP_011534440.1:n.11-4381T>C
XM_011536139.1:c.-11-4381T>C XP_011534441.1:n.-11-4381T>C
XM_011536143.1:c.-37-4381T>C XP_011534445.1:n.-37-4381T>C
XM_011536144.1:c.-37-4381T>C XP_011534446.1:n.-37-4381T>C