Canonical Allele Identifier: CA2663271136
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219489197_219489199del , CM000664.2:g.219489197_219489199del GRCh38
NC_000002.11:g.220353919_220353921del , CM000664.1:g.220353919_220353921del GRCh37
NC_000002.10:g.220062163_220062165del NCBI36
NG_051022.1:g.59983_59985del

Transcript Alleles

HGVS Amino-acid Change
ENST00000312358.12:c.8293_8295del (SPEG) MANE Select ENSP00000311684.7:p.Lys2765del
ENST00000312358.11:c.8293_8295del (SPEG) ENSP00000311684.7:p.Lys2765del
ENST00000485813.5:n.7536_7538del (SPEG)
NM_005876.4:c.8293_8295del (SPEG) NP_005867.3:p.Lys2765del
XM_005246237.2:c.8011_8013del (SPEG) XP_005246294.1:p.Lys2671del
XM_005246239.2:c.5917_5919del (SPEG) XP_005246296.1:p.Lys1973del
XM_005246240.2:c.5746_5748del (SPEG) XP_005246297.1:p.Lys1916del
XM_005246241.1:c.5746_5748del (SPEG) XP_005246298.1:p.Lys1916del
XM_005246242.3:c.5932_5934del (SPEG) XP_005246299.1:p.Lys1978del
XM_006712189.2:c.7981_7983del (SPEG) XP_006712252.1:p.Lys2661del
XM_006712193.2:c.5746_5748del (SPEG) XP_006712256.1:p.Lys1916del
XM_011510479.1:c.8323_8325del (SPEG) XP_011508781.1:p.Lys2775del
XM_011510480.1:c.8155_8157del (SPEG) XP_011508782.1:p.Lys2719del
XM_011510481.1:c.8146_8148del (SPEG) XP_011508783.1:p.Lys2716del
XM_011510482.1:c.8140_8142del (SPEG) XP_011508784.1:p.Lys2714del
XM_011510483.1:c.8062_8064del (SPEG) XP_011508785.1:p.Lys2688del
XM_011510484.1:c.7978_7980del (SPEG) XP_011508786.1:p.Lys2660del
XR_923921.1:n.353-6788_353-6786del (ASIC4-AS1)
XM_005246242.4:c.5932_5934del (SPEG) XP_005246299.1:p.Lys1978del
XM_006712189.3:c.7981_7983del (SPEG) XP_006712252.1:p.Lys2661del
XM_006712193.3:c.5746_5748del (SPEG) XP_006712256.1:p.Lys1916del
XM_011510479.2:c.8323_8325del (SPEG) XP_011508781.1:p.Lys2775del
XM_011510483.2:c.8041_8043del (SPEG) XP_011508785.2:p.Lys2681del
XM_017003157.1:c.8041_8043del (SPEG) XP_016858646.1:p.Lys2681del
XM_017003158.2:c.5746_5748del (SPEG) XP_016858647.1:p.Lys1916del
XM_017003160.1:c.3301_3303del (SPEG) XP_016858649.1:p.Lys1101del
XR_923921.2:n.392-6788_392-6786del (ASIC4-AS1)
NM_005876.5:c.8293_8295del (SPEG) MANE Select NP_005867.3:p.Lys2765del