Canonical Allele Identifier: CA212804
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78464517_78464518dup , CM000666.2:g.78464517_78464518dup GRCh38
NC_000004.11:g.79385671_79385672dup , CM000666.1:g.79385671_79385672dup GRCh37
NC_000004.10:g.79604695_79604696dup NCBI36
NG_015812.1:g.411948_411949dup
NG_015812.2:g.411948_411949dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682513.1:c.6963_6964dup ENSP00000508201.1:p.Val2322GlyfsTer6
ENST00000512123.4:c.6963_6964dup MANE Select ENSP00000422834.2:p.Val2322GlyfsTer6
ENST00000512123.3:c.6963_6964dup ENSP00000422834.2:p.Val2322GlyfsTer6
NM_025074.6:c.6963_6964dup NP_079350.5:p.Val2322GlyfsTer6
XM_006714314.1:c.6957_6958dup XP_006714377.1:p.Val2320GlyfsTer6
XM_006714316.1:c.6963_6964dup XP_006714379.1:p.Val2322GlyfsTer6
XM_011532270.1:c.4662_4663dup XP_011530572.1:p.Val1555GlyfsTer6
XM_011532271.1:c.1851_1852dup XP_011530573.1:p.Val618GlyfsTer6
XM_006714316.3:c.6963_6964dup XP_006714379.1:p.Val2322GlyfsTer6
NM_025074.7:c.6963_6964dup MANE Select NP_079350.5:p.Val2322GlyfsTer6