Canonical Allele Identifier: CA128354176
Community Standard Title: NM_006083.4(IK):c.16+120_16+129del
Gene: IK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140648044_140648053del , CM000667.2:g.140648044_140648053del GRCh38
NC_000005.9:g.140027629_140027638del , CM000667.1:g.140027629_140027638del GRCh37
NC_000005.8:g.140007813_140007822del NCBI36
NG_021417.1:g.4736_4745del

Transcript Alleles

HGVS Amino-acid Change
NM_006083.4:c.16+120_16+129del MANE Select NP_006074.2:n.16+120_16+129del
ENST00000417647.7:c.16+120_16+129del MANE Select ENSP00000396301.2:n.16+120_16+129del
NM_006083.3:c.16+120_16+129del NP_006074.2:n.16+120_16+129del
ENST00000417647.6:c.16+120_16+129del ENSP00000396301.2:n.16+120_16+129del
ENST00000503332.5:c.16+120_16+129del ENSP00000421930.1:n.16+120_16+129del
ENST00000507593.5:c.16+120_16+129del ENSP00000424622.1:n.16+120_16+129del
ENST00000508301.5:c.16+120_16+129del ENSP00000422641.1:n.16+120_16+129del
ENST00000513256.5:c.5-427_5-418del ENSP00000425564.1:n.5-427_5-418del
ENST00000523672.1:n.80+37_80+46del
ENST00000620556.4:c.16+120_16+129del ENSP00000480993.1:n.16+120_16+129del
XR_002956156.1:n.107+120_107+129del