Canonical Allele Identifier: CA2636827078

Gene: SLC46A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405926_28405927dup , CM000679.2:g.28405926_28405927dup	GRCh38
NC_000017.10:g.26732944_26732945dup , CM000679.1:g.26732944_26732945dup	GRCh37
NC_000017.9:g.23757071_23757072dup	NCBI36
NG_013306.1:g.5289_5290dup , LRG_183:g.5289_5290dup

Transcript Alleles

HGVS	Amino-acid Change
NM_080669.6:c.193_194dup MANE Select	NP_542400.2:p.Cys66AlafsTer25
ENST00000612814.5:c.193_194dup MANE Select	ENSP00000480703.1:p.Cys66AlafsTer25
NM_001242366.2:c.193_194dup	NP_001229295.1:p.Cys66AlafsTer25
NM_001242366.3:c.193_194dup	NP_001229295.1:p.Cys66AlafsTer25
NM_080669.5:c.193_194dup	NP_542400.2:p.Cys66AlafsTer25
ENST00000581516.1:c.-30_-29dup	ENSP00000462942.1:n.-30_-29dup
ENST00000582590.1:n.247_248dup
ENST00000584426.1:c.-36-454_-36-453dup	ENSP00000467416.1:n.-36-454_-36-453dup
ENST00000584995.5:c.-30_-29dup	ENSP00000464190.1:n.-30_-29dup
ENST00000612814.4:c.193_194dup	ENSP00000480703.1:p.Cys66AlafsTer25
ENST00000618626.1:c.193_194dup	ENSP00000483652.1:p.Cys66AlafsTer25
XM_005277786.2:c.193_194dup	XP_005277843.1:p.Cys66AlafsTer25
XM_005277786.3:c.193_194dup	XP_005277843.1:p.Cys66AlafsTer25
XM_017024110.1:c.-30_-29dup	XP_016879599.1:n.-30_-29dup
XR_934643.1:n.89+475_89+476dup