Canonical Allele Identifier: CA2838894057

Gene: SLC44A2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631477del , CM000681.2:g.10631477del	GRCh38
NC_000019.9:g.10742153del , CM000681.1:g.10742153del	GRCh37
NC_000019.8:g.10603153del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.444del MANE Select	ENSP00000336888.4:p.Val149TrpfsTer?
ENST00000335757.9:c.444del	ENSP00000336888.4:p.Val149TrpfsTer?
ENST00000407327.8:c.438del	ENSP00000385135.3:p.Val147TrpfsTer?
ENST00000586078.5:c.444del	ENSP00000466664.1:p.Val149TrpfsTer?
ENST00000588409.1:c.246-3279del	ENSP00000468070.1:n.246-3279del
ENST00000588465.5:n.353del
ENST00000588688.5:c.285del	ENSP00000467552.1:p.Val96TrpfsTer?
ENST00000590382.5:c.279del	ENSP00000468691.1:p.Val94TrpfsTer?
ENST00000590857.5:c.-106del	ENSP00000465547.1:n.-106del
ENST00000592293.5:c.*241del	ENSP00000466612.1:n.*241del
NM_001145056.1:c.438del	NP_001138528.1:p.Val147TrpfsTer?
NM_020428.3:c.444del	NP_065161.3:p.Val149TrpfsTer?
XM_005259997.1:c.444del	XP_005260054.1:p.Val149TrpfsTer?
XM_005259999.1:c.438del	XP_005260056.1:p.Val147TrpfsTer?
NM_001363611.1:c.444del	NP_001350540.1:p.Val149TrpfsTer?
XM_005259999.2:c.438del	XP_005260056.1:p.Val147TrpfsTer?
NM_020428.4:c.444del MANE Select	NP_065161.3:p.Val149TrpfsTer?
NM_001145056.2:c.438del	NP_001138528.1:p.Val147TrpfsTer?
NM_001363611.2:c.444del	NP_001350540.1:p.Val149TrpfsTer?