Canonical Allele Identifier: CA2689084355

Gene: SLC52A2

Linked Data

• gnomAD v4: 8-144360530-TCAGGGCTAGGAGCCAGGTCCTGGCGCAGTCAGCCCTGACATTCTGCTCGCTCACTGCAGGTCCTTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144360538_144360604del , CM000670.2:g.144360538_144360604del	GRCh38
NG_032872.2:g.6982_7048del

Transcript Alleles

HGVS	Amino-acid change
ENST00000329994.7:c.1001+45_1016del
ENST00000526338.7:c.509+45_524del
ENST00000526752.3:c.131-265_131-199del	ENSP00000433796.1:n.131-265_131-199del
ENST00000526779.3:c.*313+45_*328del
ENST00000526891.2:c.737+45_752del
ENST00000527078.6:c.1001+45_1016del
ENST00000532815.2:c.1001+45_1016del
ENST00000533662.2:c.1001+45_1016del
ENST00000534725.6:c.1001+45_1016del
ENST00000643944.2:c.1001+45_1016del
ENST00000674779.1:c.*313+45_*328del
ENST00000674821.1:c.*805+45_*820del
ENST00000674870.1:c.1001+45_1016del
ENST00000674929.1:c.509+45_524del
ENST00000675121.1:c.1001+45_1016del
ENST00000675280.1:c.1001+45_1016del
ENST00000675292.1:c.1001+45_1016del
ENST00000675597.1:c.509+45_524del
ENST00000675787.1:c.1001+45_1005del
ENST00000675888.1:c.1001+45_1016del
ENST00000675998.1:n.598_664del
ENST00000676094.1:c.452+45_467del
ENST00000676358.1:c.*313+45_*328del
ENST00000329994.6:c.1001+45_1016del
ENST00000402965.5:c.1001+45_1016del
ENST00000526752.1:c.131-265_131-199del	ENSP00000433796.1:n.131-265_131-199del
ENST00000526779.1:c.*313+45_*328del
ENST00000527078.5:c.1001+45_1016del
ENST00000530047.5:c.1001+45_1016del
ENST00000532887.5:c.1001+45_1016del
NM_001253815.1:c.1001+45_1016del
NM_001253816.1:c.1001+45_1016del
NM_024531.4:c.1001+45_1016del
NR_045600.1:n.1493+45_1508del
XM_006716658.1:c.1001+45_1016del
XM_006716659.1:c.1001+45_1016del
XM_006716660.1:c.1001+45_1016del
XM_011517300.1:c.737+45_752del
NM_001363118.1:c.1001+45_1016del
NM_001363120.1:c.1001+45_1016del
NM_001363121.1:c.1001+45_1016del
NM_001363122.1:c.509+45_524del
XM_011517300.2:c.737+45_752del
XM_017013821.1:c.509+45_524del
XM_017013822.1:c.509+45_524del
NM_001253815.2:c.1001+45_1016del
NM_001253816.2:c.1001+45_1016del
NM_001363118.2:c.1001+45_1016del
NM_001363120.2:c.1001+45_1016del
NM_001363121.2:c.1001+45_1016del
NM_001363122.2:c.509+45_524del
NM_024531.5:c.1001+45_1016del
NR_045600.2:n.1461+45_1476del