Canonical Allele Identifier: CA2582408691

Gene: SLC44A2

Linked Data

• gnomAD v4: 19-10631147-C-CTGGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631150_10631151insGGAGTGG , CM000681.2:g.10631150_10631151insGGAGTGG	GRCh38
NC_000019.9:g.10741826_10741827insGGAGTGG , CM000681.1:g.10741826_10741827insGGAGTGG	GRCh37
NC_000019.8:g.10602826_10602827insGGAGTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.330+9_330+10insGGAGTGG MANE Select	ENSP00000336888.4:n.330+9_330+10insGGAGTGG
ENST00000335757.9:c.330+9_330+10insGGAGTGG	ENSP00000336888.4:n.330+9_330+10insGGAGTGG
ENST00000407327.8:c.324+9_324+10insGGAGTGG	ENSP00000385135.3:n.324+9_324+10insGGAGTGG
ENST00000586078.5:c.330+9_330+10insGGAGTGG	ENSP00000466664.1:n.330+9_330+10insGGAGTGG
ENST00000588409.1:c.245+3146_245+3147insGGAGTGG	ENSP00000468070.1:n.245+3146_245+3147insGGAGTGG
ENST00000588465.5:n.239+9_239+10insGGAGTGG
ENST00000588688.5:c.171+9_171+10insGGAGTGG	ENSP00000467552.1:n.171+9_171+10insGGAGTGG
ENST00000590382.5:c.165+9_165+10insGGAGTGG	ENSP00000468691.1:n.165+9_165+10insGGAGTGG
ENST00000590857.5:c.-220+9_-220+10insGGAGTGG	ENSP00000465547.1:n.-220+9_-220+10insGGAGTGG
ENST00000592293.5:c.*127+9_*127+10insGGAGTGG	ENSP00000466612.1:n.*127+9_*127+10insGGAGTGG
NM_001145056.1:c.324+9_324+10insGGAGTGG	NP_001138528.1:n.324+9_324+10insGGAGTGG
NM_020428.3:c.330+9_330+10insGGAGTGG	NP_065161.3:n.330+9_330+10insGGAGTGG
XM_005259997.1:c.330+9_330+10insGGAGTGG	XP_005260054.1:n.330+9_330+10insGGAGTGG
XM_005259999.1:c.324+9_324+10insGGAGTGG	XP_005260056.1:n.324+9_324+10insGGAGTGG
NM_001363611.1:c.330+9_330+10insGGAGTGG	NP_001350540.1:n.330+9_330+10insGGAGTGG
XM_005259999.2:c.324+9_324+10insGGAGTGG	XP_005260056.1:n.324+9_324+10insGGAGTGG
NM_020428.4:c.330+9_330+10insGGAGTGG MANE Select	NP_065161.3:n.330+9_330+10insGGAGTGG
NM_001145056.2:c.324+9_324+10insGGAGTGG	NP_001138528.1:n.324+9_324+10insGGAGTGG
NM_001363611.2:c.330+9_330+10insGGAGTGG	NP_001350540.1:n.330+9_330+10insGGAGTGG