Canonical Allele Identifier: CA2654936253

Gene: SLC19A1

Linked Data

• gnomAD v4: 21-45537985-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45537986del , CM000683.2:g.45537986del	GRCh38
NC_000021.8:g.46957900del , CM000683.1:g.46957900del	GRCh37
NC_000021.7:g.45782328del	NCBI36
NG_028278.1:g.9486del
NG_028278.2:g.30158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311124.9:c.-27del MANE Select	ENSP00000308895.4:n.-27del
ENST00000650808.1:c.-27del	ENSP00000498221.1:n.-27del
ENST00000311124.8:c.-27del	ENSP00000308895.4:n.-27del
ENST00000380010.8:c.-27del	ENSP00000369347.4:n.-27del
ENST00000427839.5:c.-27del	ENSP00000401850.1:n.-27del
ENST00000443742.1:c.-27del	ENSP00000411345.1:n.-27del
ENST00000528477.1:c.-27del	ENSP00000435780.1:n.-27del
ENST00000567670.5:c.-27del	ENSP00000457278.1:n.-27del
NM_001205206.1:c.-27del	NP_001192135.1:n.-27del
NM_194255.2:c.-27del	NP_919231.1:n.-27del
XM_005261164.2:c.-385del	XP_005261221.1:n.-385del
XM_011529696.1:c.265del	XP_011527998.1:p.Ser89ProfsTer7
XM_011529697.1:c.265del	XP_011527999.1:p.Ser89ProfsTer7
XM_011529698.1:c.40del	XP_011528000.1:p.Ser14ProfsTer7
XM_011529700.1:c.-27del	XP_011528002.1:n.-27del
XM_011529701.1:c.-27del	XP_011528003.1:n.-27del
XM_011529702.1:c.-27del	XP_011528004.1:n.-27del
XM_011529703.1:c.-27del	XP_011528005.1:n.-27del
XM_011529704.1:c.-27del	XP_011528006.1:n.-27del
XM_011529705.1:c.265del	XP_011528007.1:p.Ser89ProfsTer7
XM_011529707.1:c.265del	XP_011528009.1:p.Ser89ProfsTer7
XM_011529708.1:c.-27del	XP_011528010.1:n.-27del
XM_011529709.1:c.-385del	XP_011528011.1:n.-385del
XM_011529710.1:c.-165-5838del	XP_011528012.1:n.-165-5838del
NM_001205206.2:c.-27del	NP_001192135.1:n.-27del
NM_001352510.1:c.-385del	NP_001339439.1:n.-385del
NM_001352511.1:c.-27del	NP_001339440.1:n.-27del
NM_001352512.1:c.-27del	NP_001339441.1:n.-27del
NM_194255.3:c.-27del	NP_919231.1:n.-27del
XM_011529696.2:c.265del	XP_011527998.1:p.Ser89ProfsTer7
XM_011529698.2:c.40del	XP_011528000.1:p.Ser14ProfsTer7
XM_011529700.2:c.-27del	XP_011528002.1:n.-27del
XM_011529701.2:c.-27del	XP_011528003.1:n.-27del
XM_011529702.2:c.-27del	XP_011528004.1:n.-27del
XM_011529703.2:c.-27del	XP_011528005.1:n.-27del
XM_011529709.2:c.-385del	XP_011528011.1:n.-385del
XM_017028443.1:c.178del	XP_016883932.1:p.Ser60ProfsTer7
XM_017028444.1:c.265del	XP_016883933.1:p.Ser89ProfsTer7
XM_017028445.2:c.265del	XP_016883934.1:p.Ser89ProfsTer7
NM_194255.4:c.-27del MANE Select	NP_919231.1:n.-27del
NM_001205206.3:c.-27del	NP_001192135.1:n.-27del
NM_001352510.2:c.-385del	NP_001339439.1:n.-385del
NM_001352511.2:c.-27del	NP_001339440.1:n.-27del
NM_001352512.2:c.-27del	NP_001339441.1:n.-27del
NM_001205206.4:c.-27del	NP_001192135.1:n.-27del
NM_001352511.3:c.-27del	NP_001339440.1:n.-27del