Canonical Allele Identifier: CA321946777

Gene: SLC19A1

Linked Data

• dbSNP Id: rs1054121826
• gnomAD v2: 21-46958005-C-CTCT
• gnomAD v3: 21-45538091-C-CTCT
• gnomAD v4: 21-45538091-C-CTCT
• MyVariant Identifiers: chr21:g.46958005_46958006insTCT (hg19) ; chr21:g.45538091_45538092insTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45538093_45538094insTTC , CM000683.2:g.45538093_45538094insTTC	GRCh38
NC_000021.8:g.46958007_46958008insTTC , CM000683.1:g.46958007_46958008insTTC	GRCh37
NC_000021.7:g.45782435_45782436insTTC	NCBI36
NG_028278.1:g.9380_9381insAGA
NG_028278.2:g.30052_30053insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311124.9:c.-49-84_-49-83insAGA MANE Select	ENSP00000308895.4:n.-49-84_-49-83insAGA
ENST00000650808.1:c.-49-84_-49-83insAGA	ENSP00000498221.1:n.-49-84_-49-83insAGA
ENST00000311124.8:c.-49-84_-49-83insAGA	ENSP00000308895.4:n.-49-84_-49-83insAGA
ENST00000380010.8:c.-49-84_-49-83insAGA	ENSP00000369347.4:n.-49-84_-49-83insAGA
ENST00000427839.5:c.-49-84_-49-83insAGA	ENSP00000401850.1:n.-49-84_-49-83insAGA
ENST00000443742.1:c.-49-84_-49-83insAGA	ENSP00000411345.1:n.-49-84_-49-83insAGA
ENST00000528477.1:c.-49-84_-49-83insAGA	ENSP00000435780.1:n.-49-84_-49-83insAGA
ENST00000567670.5:c.-49-84_-49-83insAGA	ENSP00000457278.1:n.-49-84_-49-83insAGA
NM_001205206.1:c.-49-84_-49-83insAGA	NP_001192135.1:n.-49-84_-49-83insAGA
NM_194255.2:c.-49-84_-49-83insAGA	NP_919231.1:n.-49-84_-49-83insAGA
XM_005261164.2:c.-407-84_-407-83insAGA	XP_005261221.1:n.-407-84_-407-83insAGA
XM_011529696.1:c.243-84_243-83insAGA	XP_011527998.1:n.243-84_243-83insAGA
XM_011529697.1:c.243-84_243-83insAGA	XP_011527999.1:n.243-84_243-83insAGA
XM_011529698.1:c.18-84_18-83insAGA	XP_011528000.1:n.18-84_18-83insAGA
XM_011529700.1:c.-49-84_-49-83insAGA	XP_011528002.1:n.-49-84_-49-83insAGA
XM_011529701.1:c.-49-84_-49-83insAGA	XP_011528003.1:n.-49-84_-49-83insAGA
XM_011529702.1:c.-49-84_-49-83insAGA	XP_011528004.1:n.-49-84_-49-83insAGA
XM_011529703.1:c.-49-84_-49-83insAGA	XP_011528005.1:n.-49-84_-49-83insAGA
XM_011529704.1:c.-49-84_-49-83insAGA	XP_011528006.1:n.-49-84_-49-83insAGA
XM_011529705.1:c.243-84_243-83insAGA	XP_011528007.1:n.243-84_243-83insAGA
XM_011529707.1:c.243-84_243-83insAGA	XP_011528009.1:n.243-84_243-83insAGA
XM_011529708.1:c.-49-84_-49-83insAGA	XP_011528010.1:n.-49-84_-49-83insAGA
XM_011529709.1:c.-407-84_-407-83insAGA	XP_011528011.1:n.-407-84_-407-83insAGA
XM_011529710.1:c.-165-5944_-165-5943insAGA	XP_011528012.1:n.-165-5944_-165-5943insAGA
NM_001205206.2:c.-49-84_-49-83insAGA	NP_001192135.1:n.-49-84_-49-83insAGA
NM_001352510.1:c.-407-84_-407-83insAGA	NP_001339439.1:n.-407-84_-407-83insAGA
NM_001352511.1:c.-49-84_-49-83insAGA	NP_001339440.1:n.-49-84_-49-83insAGA
NM_001352512.1:c.-49-84_-49-83insAGA	NP_001339441.1:n.-49-84_-49-83insAGA
NM_194255.3:c.-49-84_-49-83insAGA	NP_919231.1:n.-49-84_-49-83insAGA
XM_011529696.2:c.243-84_243-83insAGA	XP_011527998.1:n.243-84_243-83insAGA
XM_011529698.2:c.18-84_18-83insAGA	XP_011528000.1:n.18-84_18-83insAGA
XM_011529700.2:c.-49-84_-49-83insAGA	XP_011528002.1:n.-49-84_-49-83insAGA
XM_011529701.2:c.-49-84_-49-83insAGA	XP_011528003.1:n.-49-84_-49-83insAGA
XM_011529702.2:c.-49-84_-49-83insAGA	XP_011528004.1:n.-49-84_-49-83insAGA
XM_011529703.2:c.-49-84_-49-83insAGA	XP_011528005.1:n.-49-84_-49-83insAGA
XM_011529709.2:c.-407-84_-407-83insAGA	XP_011528011.1:n.-407-84_-407-83insAGA
XM_017028443.1:c.156-84_156-83insAGA	XP_016883932.1:n.156-84_156-83insAGA
XM_017028444.1:c.243-84_243-83insAGA	XP_016883933.1:n.243-84_243-83insAGA
XM_017028445.2:c.243-84_243-83insAGA	XP_016883934.1:n.243-84_243-83insAGA
NM_194255.4:c.-49-84_-49-83insAGA MANE Select	NP_919231.1:n.-49-84_-49-83insAGA
NM_001205206.3:c.-49-84_-49-83insAGA	NP_001192135.1:n.-49-84_-49-83insAGA
NM_001352510.2:c.-407-84_-407-83insAGA	NP_001339439.1:n.-407-84_-407-83insAGA
NM_001352511.2:c.-49-84_-49-83insAGA	NP_001339440.1:n.-49-84_-49-83insAGA
NM_001352512.2:c.-49-84_-49-83insAGA	NP_001339441.1:n.-49-84_-49-83insAGA
NM_001205206.4:c.-49-84_-49-83insAGA	NP_001192135.1:n.-49-84_-49-83insAGA
NM_001352511.3:c.-49-84_-49-83insAGA	NP_001339440.1:n.-49-84_-49-83insAGA