Canonical Allele Identifier: CA505385800

Gene: SLC44A2

Linked Data

• MyVariant Identifiers: chr19:g.10741797_10741798del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631121_10631122del , CM000681.2:g.10631121_10631122del	GRCh38
NC_000019.9:g.10741797_10741798del , CM000681.1:g.10741797_10741798del	GRCh37
NC_000019.8:g.10602797_10602798del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.310_311del MANE Select	ENSP00000336888.4:p.Phe104ProfsTer29
ENST00000335757.9:c.310_311del	ENSP00000336888.4:p.Phe104ProfsTer29
ENST00000407327.8:c.304_305del	ENSP00000385135.3:p.Phe102ProfsTer29
ENST00000586078.5:c.310_311del	ENSP00000466664.1:p.Phe104ProfsTer29
ENST00000588409.1:c.245+3117_245+3118del	ENSP00000468070.1:n.245+3117_245+3118del
ENST00000588465.5:n.219_220del
ENST00000588688.5:c.151_152del	ENSP00000467552.1:p.Phe51ProfsTer29
ENST00000590382.5:c.145_146del	ENSP00000468691.1:p.Phe49ProfsTer29
ENST00000590857.5:c.-240_-239del	ENSP00000465547.1:n.-240_-239del
ENST00000592293.5:c.*107_*108del	ENSP00000466612.1:n.*107_*108del
NM_001145056.1:c.304_305del	NP_001138528.1:p.Phe102ProfsTer29
NM_020428.3:c.310_311del	NP_065161.3:p.Phe104ProfsTer29
XM_005259997.1:c.310_311del	XP_005260054.1:p.Phe104ProfsTer29
XM_005259999.1:c.304_305del	XP_005260056.1:p.Phe102ProfsTer29
NM_001363611.1:c.310_311del	NP_001350540.1:p.Phe104ProfsTer29
XM_005259999.2:c.304_305del	XP_005260056.1:p.Phe102ProfsTer29
NM_020428.4:c.310_311del MANE Select	NP_065161.3:p.Phe104ProfsTer29
NM_001145056.2:c.304_305del	NP_001138528.1:p.Phe102ProfsTer29
NM_001363611.2:c.310_311del	NP_001350540.1:p.Phe104ProfsTer29