Canonical Allele Identifier: CA2739272430

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865543_23865558del , CM000663.2:g.23865543_23865558del	GRCh38
NC_000001.10:g.24192033_24192048del , CM000663.1:g.24192033_24192048del	GRCh37
NC_000001.9:g.24064620_24064635del	NCBI36
NG_013346.1:g.7815_7830del

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.460_475del MANE Select	NP_000138.2:p.Asn154GlyfsTer28
ENST00000374479.4:c.460_475del MANE Select	ENSP00000363603.3:p.Asn154GlyfsTer28
NM_000147.4:c.460_475del	NP_000138.2:p.Asn154GlyfsTer28
NR_174379.1:n.638_653del
NR_174380.1:n.687_702del
NR_174381.1:n.526_541del
NR_174382.1:n.923_938del
ENST00000374479.3:c.460_475del	ENSP00000363603.3:p.Asn154GlyfsTer28
XM_005245821.1:c.85_100del	XP_005245878.1:p.Asn29GlyfsTer28
XM_005245821.3:c.85_100del	XP_005245878.1:p.Asn29GlyfsTer28
XM_011541167.1:c.-174_-159del	XP_011539469.1:n.-174_-159del
XM_011541167.3:c.-174_-159del	XP_011539469.1:n.-174_-159del
XM_017000905.2:c.157_172del	XP_016856394.1:p.Asn53GlyfsTer28