Canonical Allele Identifier: CA2243306828
Gene: SRR HGNC NCBI

Linked Data

dbSNP Id: rs2075442439

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2312766_2312771del , CM000679.2:g.2312766_2312771del GRCh38
NC_000017.10:g.2216060_2216065del , CM000679.1:g.2216060_2216065del GRCh37
NC_000017.9:g.2162810_2162815del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000344595.10:c.-4-2791_-4-2786del MANE Select ENSP00000339435.5:n.-4-2791_-4-2786del
ENST00000344595.9:c.-4-2791_-4-2786del ENSP00000339435.5:n.-4-2791_-4-2786del
ENST00000570662.2:c.-4-2791_-4-2786del ENSP00000460581.2:n.-4-2791_-4-2786del
ENST00000572709.5:c.-4-2791_-4-2786del ENSP00000458814.1:n.-4-2791_-4-2786del
ENST00000574987.1:c.-279-5104_-279-5099del ENSP00000461343.1:n.-279-5104_-279-5099de...
ENST00000575840.5:c.-5+2776_-5+2781del ENSP00000461589.1:n.-5+2776_-5+2781del
ENST00000576620.5:c.-4-2791_-4-2786del ENSP00000461125.1:n.-4-2791_-4-2786del
ENST00000576848.1:c.-85+8749_-85+8754del ENSP00000476682.1:n.-85+8749_-85+8754del
NM_001304803.1:c.-279-5104_-279-5099del NP_001291732.1:n.-279-5104_-279-5099del
NM_021947.2:c.-4-2791_-4-2786del NP_068766.1:n.-4-2791_-4-2786del
XM_006721565.2:c.-4-2791_-4-2786del XP_006721628.1:n.-4-2791_-4-2786del
XM_006721566.2:c.-4-2791_-4-2786del XP_006721629.1:n.-4-2791_-4-2786del
XM_011523974.1:c.-5+2776_-5+2781del XP_011522276.1:n.-5+2776_-5+2781del
XM_011523975.1:c.-4-2791_-4-2786del XP_011522277.1:n.-4-2791_-4-2786del
XM_006721565.3:c.-4-2791_-4-2786del XP_006721628.1:n.-4-2791_-4-2786del
XM_006721566.3:c.-4-2791_-4-2786del XP_006721629.1:n.-4-2791_-4-2786del
XM_011523974.3:c.-5+2776_-5+2781del XP_011522276.1:n.-5+2776_-5+2781del
NM_021947.3:c.-4-2791_-4-2786del MANE Select NP_068766.1:n.-4-2791_-4-2786del