Canonical Allele Identifier: CA2576621668

Gene: SLC44A2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631295del , CM000681.2:g.10631295del	GRCh38
NC_000019.9:g.10741971del , CM000681.1:g.10741971del	GRCh37
NC_000019.8:g.10602971del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.351del MANE Select	ENSP00000336888.4:p.Asp118ThrfsTer7
ENST00000335757.9:c.351del	ENSP00000336888.4:p.Asp118ThrfsTer7
ENST00000407327.8:c.345del	ENSP00000385135.3:p.Asp116ThrfsTer7
ENST00000586078.5:c.351del	ENSP00000466664.1:p.Asp118ThrfsTer7
ENST00000588409.1:c.245+3291del	ENSP00000468070.1:n.245+3291del
ENST00000588465.5:n.260del
ENST00000588688.5:c.192del	ENSP00000467552.1:p.Asp65ThrfsTer7
ENST00000590382.5:c.186del	ENSP00000468691.1:p.Asp63ThrfsTer7
ENST00000590857.5:c.-199del	ENSP00000465547.1:n.-199del
ENST00000592293.5:c.*148del	ENSP00000466612.1:n.*148del
NM_001145056.1:c.345del	NP_001138528.1:p.Asp116ThrfsTer7
NM_020428.3:c.351del	NP_065161.3:p.Asp118ThrfsTer7
XM_005259997.1:c.351del	XP_005260054.1:p.Asp118ThrfsTer7
XM_005259999.1:c.345del	XP_005260056.1:p.Asp116ThrfsTer7
NM_001363611.1:c.351del	NP_001350540.1:p.Asp118ThrfsTer7
XM_005259999.2:c.345del	XP_005260056.1:p.Asp116ThrfsTer7
NM_020428.4:c.351del MANE Select	NP_065161.3:p.Asp118ThrfsTer7
NM_001145056.2:c.345del	NP_001138528.1:p.Asp116ThrfsTer7
NM_001363611.2:c.351del	NP_001350540.1:p.Asp118ThrfsTer7