Canonical Allele Identifier: CA21723489
Community Standard Title: NM_001024845.3(SLC6A9):c.31-6492_31-6487del
Gene: SLC6A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44017404_44017409del , CM000663.2:g.44017404_44017409del GRCh38
NC_000001.10:g.44483076_44483081del , CM000663.1:g.44483076_44483081del GRCh37
NC_000001.9:g.44255663_44255668del NCBI36
NG_050929.1:g.19119_19124del

Transcript Alleles

HGVS Amino-acid Change
NM_001024845.3:c.31-6492_31-6487del MANE Select NP_001020016.1:n.31-6492_31-6487del
ENST00000372310.8:c.31-6492_31-6487del MANE Select ENSP00000361384.4:n.31-6492_31-6487del
NM_001024845.2:c.31-6492_31-6487del NP_001020016.1:n.31-6492_31-6487del
NM_001328626.1:c.-15+6874_-15+6879del NP_001315555.1:n.-15+6874_-15+6879del
NM_001328626.2:c.-15+6874_-15+6879del NP_001315555.1:n.-15+6874_-15+6879del
NM_001328629.1:c.31-6492_31-6487del NP_001315558.1:n.31-6492_31-6487del
NM_001328630.1:c.-15+6874_-15+6879del NP_001315559.1:n.-15+6874_-15+6879del
NM_001328630.2:c.-15+6874_-15+6879del NP_001315559.1:n.-15+6874_-15+6879del
NR_048549.1:n.302+6874_302+6879del
ENST00000372306.7:c.31-6492_31-6487del ENSP00000361380.3:n.31-6492_31-6487del
ENST00000372310.7:c.31-6492_31-6487del ENSP00000361384.3:n.31-6492_31-6487del
ENST00000466926.1:c.31-5652_31-5647del ENSP00000433241.1:n.31-5652_31-5647del
ENST00000475075.6:c.-15+6874_-15+6879del ENSP00000434460.1:n.-15+6874_-15+6879del
ENST00000489764.1:n.240-6492_240-6487del
ENST00000492434.6:n.278-6492_278-6487del
ENST00000673836.1:c.31-6492_31-6487del ENSP00000501314.1:n.31-6492_31-6487del
XM_017002153.2:c.-1-6492_-1-6487del XP_016857642.1:n.-1-6492_-1-6487del
XM_024449295.1:c.-9+6874_-9+6879del XP_024305063.1:n.-9+6874_-9+6879del