Canonical Allele Identifier: CA2582408688

Gene: SLC44A2

Linked Data

• gnomAD v4: 19-10631132-C-CACTCCCCAGGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631135_10631146dup , CM000681.2:g.10631135_10631146dup	GRCh38
NC_000019.9:g.10741811_10741822dup , CM000681.1:g.10741811_10741822dup	GRCh37
NC_000019.8:g.10602811_10602822dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.324_330+5dup
ENST00000335757.9:c.324_330+5dup
ENST00000407327.8:c.318_324+5dup
ENST00000586078.5:c.324_330+5dup
ENST00000588409.1:c.245+3131_245+3142dup	ENSP00000468070.1:n.245+3131_245+3142dup
ENST00000588465.5:n.233_239+5dup
ENST00000588688.5:c.165_171+5dup
ENST00000590382.5:c.159_165+5dup
ENST00000590857.5:c.-226_-220+5dup
ENST00000592293.5:c.*121_*127+5dup
NM_001145056.1:c.318_324+5dup
NM_020428.3:c.324_330+5dup
XM_005259997.1:c.324_330+5dup
XM_005259999.1:c.318_324+5dup
NM_001363611.1:c.324_330+5dup
XM_005259999.2:c.318_324+5dup
NM_020428.4:c.324_330+5dup
NM_001145056.2:c.318_324+5dup
NM_001363611.2:c.324_330+5dup