Canonical Allele Identifier: CA915944179
Community Standard Title: NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del)
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969535_31969555del , CM000668.2:g.31969535_31969555del GRCh38
NC_000006.11:g.31937312_31937332del , CM000668.1:g.31937312_31937332del GRCh37
NC_000006.10:g.32045291_32045311del NCBI36
NG_032652.1:g.15732_15752del

Transcript Alleles

HGVS Amino-acid Change
NM_006929.5:c.3561_3581del MANE Select NP_008860.4:p.Leu1188_Gly1194del
ENST00000375394.7:c.3561_3581del MANE Select ENSP00000364543.2:p.Leu1188_Gly1194del
NM_006929.4:c.3561_3581del NP_008860.4:p.Leu1188_Gly1194del
ENST00000375394.6:c.3561_3581del ENSP00000364543.2:p.Leu1188_Gly1194del
ENST00000461073.6:c.*2609_*2629del ENSP00000419905.1:n.*2609_*2629del
ENST00000465703.5:n.4291_4311del
ENST00000470453.1:n.403_423del
ENST00000471818.1:n.490_510del
ENST00000474839.5:c.*2933_*2953del ENSP00000420470.1:n.*2933_*2953del
ENST00000483553.5:c.1091_1111del
ENST00000485349.6:n.4037_4057del
ENST00000491994.1:c.650_670del
ENST00000491994.2:c.*103_*123del ENSP00000417586.2:n.*103_*123del
ENST00000494058.6:n.3863_3883del
ENST00000697831.1:c.3492_3512del ENSP00000513453.1:p.Leu1165_Gly1171del
ENST00000697832.1:n.3714_3734del
ENST00000697833.1:c.*509_*529del ENSP00000513454.1:n.*509_*529del
ENST00000697834.1:n.4279_4299del
ENST00000697835.1:c.*3079_*3099del ENSP00000513455.1:n.*3079_*3099del
ENST00000697836.1:n.3915_3935del
ENST00000697837.1:c.*677_*697del ENSP00000513456.1:n.*677_*697del
ENST00000697838.1:c.3426_3446del ENSP00000513457.1:p.Leu1143_Gly1149del
ENST00000697839.1:n.4373_4393del
ENST00000697840.1:c.3597_3617del ENSP00000513458.1:p.Leu1200_Gly1206del
ENST00000697841.1:n.4472_4492del
ENST00000697842.1:n.3816_3836del
XR_926301.3:n.3577_3597del