Canonical Allele Identifier: CA290797470

Gene: COASY

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42563044dup , CM000679.2:g.42563044dup	GRCh38
NC_000017.10:g.40715062dup , CM000679.1:g.40715062dup	GRCh37
NC_000017.9:g.37968588dup	NCBI36
NG_029442.1:g.985dup
NG_034110.1:g.5971dup

Transcript Alleles

HGVS	Amino-acid Change
NM_025233.7:c.422dup MANE Select	NP_079509.5:p.Tyr141Ter
ENST00000393818.3:c.422dup MANE Select	ENSP00000377406.1:p.Tyr141Ter
NM_001042529.2:c.422dup	NP_001035994.1:p.Tyr141Ter
NM_001042529.3:c.422dup	NP_001035994.1:p.Tyr141Ter
NM_001042532.3:c.509dup	NP_001035997.2:p.Tyr170Ter
NM_001042532.4:c.509dup	NP_001035997.2:p.Tyr170Ter
NM_025233.6:c.422dup	NP_079509.5:p.Tyr141Ter
ENST00000393818.2:c.422dup	ENSP00000377406.1:p.Tyr141Ter
ENST00000421097.6:c.422dup	ENSP00000393564.2:p.Tyr141Ter
ENST00000586771.1:c.422dup	ENSP00000466838.1:p.Tyr141Ter
ENST00000587157.1:c.188dup	ENSP00000467322.1:p.Tyr63Ter
ENST00000587214.1:c.422dup	ENSP00000468583.1:p.Tyr141Ter
ENST00000590958.5:c.509dup	ENSP00000464814.1:p.Tyr170Ter
ENST00000591779.5:c.-464dup	ENSP00000467687.1:n.-464dup
XM_006722116.2:c.509dup	XP_006722179.1:p.Tyr170Ter
XM_006722116.4:c.509dup	XP_006722179.1:p.Tyr170Ter
XM_011525300.1:c.422dup	XP_011523602.1:p.Tyr141Ter
XM_011525300.2:c.422dup	XP_011523602.1:p.Tyr141Ter
XM_011525301.1:c.422dup	XP_011523603.1:p.Tyr141Ter
XR_429926.1:n.915dup