Canonical Allele Identifier: CA2695231219
Gene: ANOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731971_8731984del , CM000685.2:g.8731971_8731984del GRCh38
NC_000023.10:g.8700012_8700025del , CM000685.1:g.8700012_8700025del GRCh37
NC_000023.9:g.8660012_8660025del NCBI36
NG_007088.1:g.5204_5217del
NG_007088.2:g.5204_5217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.54_67del MANE Select ENSP00000262648.3:p.Ser19GlyfsTer?
ENST00000262648.7:c.54_67del ENSP00000262648.3:p.Ser19GlyfsTer?
ENST00000619786.1:c.54_66del
NM_000216.2:c.54_67del NP_000207.2:p.Ser19GlyfsTer?
XM_005274501.3:c.54_67del XP_005274558.1:p.Ser19GlyfsTer?
NM_000216.3:c.54_67del NP_000207.2:p.Ser19GlyfsTer?
XM_005274501.4:c.54_67del XP_005274558.1:p.Ser19GlyfsTer?
NM_000216.4:c.54_67del MANE Select NP_000207.2:p.Ser19GlyfsTer?