Canonical Allele Identifier: CA2670935247
Community Standard Title: NM_001098484.3(SLC4A4):c.1209-35_1209-31del
Gene: SLC4A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71451153_71451157del , CM000666.2:g.71451153_71451157del GRCh38
NC_000004.11:g.72316870_72316874del , CM000666.1:g.72316870_72316874del GRCh37
NC_000004.10:g.72535734_72535738del NCBI36
NG_012653.1:g.268868_268872del

Transcript Alleles

HGVS Amino-acid Change
NM_001098484.3:c.1209-35_1209-31del MANE Select NP_001091954.1:n.1209-35_1209-31del
ENST00000264485.11:c.1209-35_1209-31del MANE Select ENSP00000264485.5:n.1209-35_1209-31del
NM_003759.4:c.1077-35_1077-31del MANE Plus Clinical NP_003750.1:n.1077-35_1077-31del
ENST00000340595.4:c.1077-35_1077-31del MANE Plus Clinical ENSP00000344272.3:n.1077-35_1077-31del
NM_001098484.2:c.1209-35_1209-31del NP_001091954.1:n.1209-35_1209-31del
NM_001134742.1:c.1209-35_1209-31del NP_001128214.1:n.1209-35_1209-31del
NM_001134742.2:c.1209-35_1209-31del NP_001128214.1:n.1209-35_1209-31del
NM_003759.3:c.1077-35_1077-31del NP_003750.1:n.1077-35_1077-31del
ENST00000264485.9:c.1209-35_1209-31del ENSP00000264485.5:n.1209-35_1209-31del
ENST00000340595.3:c.1077-35_1077-31del ENSP00000344272.3:n.1077-35_1077-31del
ENST00000351898.10:c.1209-35_1209-31del ENSP00000307349.7:n.1209-35_1209-31del
ENST00000425175.5:c.1209-35_1209-31del ENSP00000393557.1:n.1209-35_1209-31del
ENST00000512686.5:c.1077-35_1077-31del ENSP00000422400.1:n.1077-35_1077-31del
ENST00000514331.1:n.1138-35_1138-31del
ENST00000649996.1:c.1209-35_1209-31del ENSP00000497468.1:n.1209-35_1209-31del
ENST00000698522.1:c.1305-35_1305-31del ENSP00000513771.1:n.1305-35_1305-31del
XM_011532390.1:c.651-35_651-31del XP_011530692.1:n.651-35_651-31del
XM_011532390.2:c.651-35_651-31del XP_011530692.1:n.651-35_651-31del
XM_017008792.1:c.984-35_984-31del XP_016864281.1:n.984-35_984-31del
XM_017008793.1:c.693-35_693-31del XP_016864282.1:n.693-35_693-31del
XM_024454267.1:c.1302-35_1302-31del XP_024310035.1:n.1302-35_1302-31del
XM_024454268.1:c.1224-35_1224-31del XP_024310036.1:n.1224-35_1224-31del
XM_024454269.1:c.1224-35_1224-31del XP_024310037.1:n.1224-35_1224-31del
XM_024454270.1:c.1209-35_1209-31del XP_024310038.1:n.1209-35_1209-31del
XM_024454271.1:c.1209-35_1209-31del XP_024310039.1:n.1209-35_1209-31del
XM_024454272.1:c.1209-35_1209-31del XP_024310040.1:n.1209-35_1209-31del