Canonical Allele Identifier: CA2649031469
Gene: SLC19A2 HGNC NCBI

Linked Data

gnomAD v4: 1-169485501-TCCGCTGCCCAC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485506_169485516del , CM000663.2:g.169485506_169485516del GRCh38
NC_000001.10:g.169454744_169454754del , CM000663.1:g.169454744_169454754del GRCh37
NC_000001.9:g.167721368_167721378del NCBI36
NG_008255.1:g.5459_5469del

Transcript Alleles

HGVS Amino-acid change
ENST00000236137.10:c.204+51_204+61del MANE Select ENSP00000236137.5:n.204+51_204+61del
ENST00000646596.1:c.204+51_204+61del ENSP00000494404.1:n.204+51_204+61del
ENST00000236137.9:c.204+51_204+61del ENSP00000236137.5:n.204+51_204+61del
ENST00000367804.4:c.204+51_204+61del ENSP00000356778.3:n.204+51_204+61del
NM_006996.2:c.204+51_204+61del NP_008927.1:n.204+51_204+61del
XM_011509076.1:c.12+541_12+551del XP_011507378.1:n.12+541_12+551del
XM_011509077.1:c.204+51_204+61del XP_011507379.1:n.204+51_204+61del
NM_001319667.1:c.204+51_204+61del NP_001306596.1:n.204+51_204+61del
NM_006996.3:c.204+51_204+61del MANE Select NP_008927.1:n.204+51_204+61del
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