Canonical Allele Identifier: CA2841746663

Gene: SLC44A2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631509del , CM000681.2:g.10631509del	GRCh38
NC_000019.9:g.10742185del , CM000681.1:g.10742185del	GRCh37
NC_000019.8:g.10603185del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.476del MANE Select	ENSP00000336888.4:p.Pro159LeufsTer25
ENST00000335757.9:c.476del	ENSP00000336888.4:p.Pro159LeufsTer25
ENST00000407327.8:c.470del	ENSP00000385135.3:p.Pro157LeufsTer25
ENST00000586078.5:c.476del	ENSP00000466664.1:p.Pro159LeufsTer25
ENST00000588409.1:c.246-3247del	ENSP00000468070.1:n.246-3247del
ENST00000588465.5:n.385del
ENST00000588688.5:c.317del	ENSP00000467552.1:p.Pro106LeufsTer25
ENST00000590382.5:c.311del	ENSP00000468691.1:p.Pro104LeufsTer25
ENST00000590857.5:c.-74del	ENSP00000465547.1:n.-74del
ENST00000592293.5:c.*273del	ENSP00000466612.1:n.*273del
NM_001145056.1:c.470del	NP_001138528.1:p.Pro157LeufsTer25
NM_020428.3:c.476del	NP_065161.3:p.Pro159LeufsTer25
XM_005259997.1:c.476del	XP_005260054.1:p.Pro159LeufsTer25
XM_005259999.1:c.470del	XP_005260056.1:p.Pro157LeufsTer25
NM_001363611.1:c.476del	NP_001350540.1:p.Pro159LeufsTer25
XM_005259999.2:c.470del	XP_005260056.1:p.Pro157LeufsTer25
NM_020428.4:c.476del MANE Select	NP_065161.3:p.Pro159LeufsTer25
NM_001145056.2:c.470del	NP_001138528.1:p.Pro157LeufsTer25
NM_001363611.2:c.476del	NP_001350540.1:p.Pro159LeufsTer25