Canonical Allele Identifier: CA2649031483
Gene: SLC19A2 HGNC NCBI

Linked Data

gnomAD v4: 1-169485511-ACCCG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485513_169485516del , CM000663.2:g.169485513_169485516del GRCh38
NC_000001.10:g.169454751_169454754del , CM000663.1:g.169454751_169454754del GRCh37
NC_000001.9:g.167721375_167721378del NCBI36
NG_008255.1:g.5456_5459del

Transcript Alleles

HGVS Amino-acid change
ENST00000236137.10:c.204+48_204+51del MANE Select ENSP00000236137.5:n.204+48_204+51del
ENST00000646596.1:c.204+48_204+51del ENSP00000494404.1:n.204+48_204+51del
ENST00000236137.9:c.204+48_204+51del ENSP00000236137.5:n.204+48_204+51del
ENST00000367804.4:c.204+48_204+51del ENSP00000356778.3:n.204+48_204+51del
NM_006996.2:c.204+48_204+51del NP_008927.1:n.204+48_204+51del
XM_011509076.1:c.12+538_12+541del XP_011507378.1:n.12+538_12+541del
XM_011509077.1:c.204+48_204+51del XP_011507379.1:n.204+48_204+51del
NM_001319667.1:c.204+48_204+51del NP_001306596.1:n.204+48_204+51del
NM_006996.3:c.204+48_204+51del MANE Select NP_008927.1:n.204+48_204+51del
Search 100 bp 5'
Search 100 bp 3'