Canonical Allele Identifier: CA2499215524
Community Standard Title: NM_013436.5(NCKAP1):c.3348_3351del (p.Tyr1116Ter)
Gene: NCKAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182925738_182925741del , CM000664.2:g.182925738_182925741del GRCh38
NC_000002.11:g.183790466_183790469del , CM000664.1:g.183790466_183790469del GRCh37
NC_000002.10:g.183498711_183498714del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_013436.5:c.3348_3351del MANE Select NP_038464.1:p.Tyr1116Ter
ENST00000361354.9:c.3348_3351del MANE Select ENSP00000355348.3:p.Tyr1116Ter
NM_013436.4:c.3348_3351del NP_038464.1:p.Tyr1116Ter
NM_205842.2:c.3366_3369del NP_995314.1:p.Tyr1122Ter
NM_205842.3:c.3366_3369del NP_995314.1:p.Tyr1122Ter
ENST00000360982.2:c.3366_3369del ENSP00000354251.2:p.Tyr1122Ter
ENST00000361354.8:c.3348_3351del ENSP00000355348.3:p.Tyr1116Ter
ENST00000477988.1:n.528_531del
ENST00000703824.1:c.3360_3363del ENSP00000515489.1:p.Tyr1120Ter
ENST00000703825.1:c.3342_3345del ENSP00000515490.1:p.Tyr1114Ter
XM_006712200.2:c.3360_3363del XP_006712263.1:p.Tyr1120Ter
XM_006712200.3:c.3360_3363del XP_006712263.1:p.Tyr1120Ter
XM_006712201.2:c.3342_3345del XP_006712264.1:p.Tyr1114Ter
XM_006712201.3:c.3342_3345del XP_006712264.1:p.Tyr1114Ter