Canonical Allele Identifier: CA2175373434
Gene: SLC24A5 HGNC NCBI

Linked Data

dbSNP Id: rs2038836577

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134138_48134142del , CM000677.2:g.48134138_48134142del GRCh38
NC_000015.9:g.48426335_48426339del , CM000677.1:g.48426335_48426339del GRCh37
NC_000015.8:g.46213627_46213631del NCBI36
NG_011500.1:g.18167_18171del

Transcript Alleles

HGVS Amino-acid change
ENST00000341459.8:c.302-120_302-116del MANE Select ENSP00000341550.3:n.302-120_302-116del
ENST00000341459.7:c.302-120_302-116del ENSP00000341550.3:n.302-120_302-116del
ENST00000449382.2:c.122-120_122-116del ENSP00000389966.2:n.122-120_122-116del
ENST00000463289.1:n.62-120_62-116del
NM_205850.2:c.302-120_302-116del NP_995322.1:n.302-120_302-116del
XM_011521458.1:c.302-120_302-116del XP_011519760.1:n.302-120_302-116del
XM_017022079.1:c.-38-120_-38-116del XP_016877568.1:n.-38-120_-38-116del
XM_017022080.1:c.-38-120_-38-116del XP_016877569.1:n.-38-120_-38-116del
XM_024449901.1:c.-38-120_-38-116del XP_024305669.1:n.-38-120_-38-116del
NM_205850.3:c.302-120_302-116del MANE Select NP_995322.1:n.302-120_302-116del