Canonical Allele Identifier: CA2175373380
Gene: SLC24A5 HGNC NCBI

Linked Data

dbSNP Id: rs2038835502

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134104_48134107del , CM000677.2:g.48134104_48134107del GRCh38
NC_000015.9:g.48426301_48426304del , CM000677.1:g.48426301_48426304del GRCh37
NC_000015.8:g.46213593_46213596del NCBI36
NG_011500.1:g.18133_18136del

Transcript Alleles

HGVS Amino-acid change
ENST00000341459.8:c.302-154_302-151del MANE Select ENSP00000341550.3:n.302-154_302-151del
ENST00000341459.7:c.302-154_302-151del ENSP00000341550.3:n.302-154_302-151del
ENST00000449382.2:c.122-154_122-151del ENSP00000389966.2:n.122-154_122-151del
ENST00000463289.1:n.62-154_62-151del
NM_205850.2:c.302-154_302-151del NP_995322.1:n.302-154_302-151del
XM_011521458.1:c.302-154_302-151del XP_011519760.1:n.302-154_302-151del
XM_017022079.1:c.-38-154_-38-151del XP_016877568.1:n.-38-154_-38-151del
XM_017022080.1:c.-38-154_-38-151del XP_016877569.1:n.-38-154_-38-151del
XM_024449901.1:c.-38-154_-38-151del XP_024305669.1:n.-38-154_-38-151del
NM_205850.3:c.302-154_302-151del MANE Select NP_995322.1:n.302-154_302-151del