Canonical Allele Identifier: CA3730063

Gene: SKIC2

Linked Data

• dbSNP Id: rs760591354
• ExAC: 6:31937113 TG / T
• gnomAD v2: 6-31937113-TG-T
• gnomAD v3: 6-31969336-TG-T
• gnomAD v4: 6-31969336-TG-T
• MyVariant Identifiers: chr6:g.31937114del (hg19) ; chr6:g.31969337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969338del , CM000668.2:g.31969338del	GRCh38
NC_000006.11:g.31937115del , CM000668.1:g.31937115del	GRCh37
NC_000006.10:g.32045094del	NCBI36
NG_032652.1:g.15535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2412del	ENSP00000419905.1:n.*2412del
ENST00000483553.6:c.*425del	ENSP00000420332.2:n.*425del
ENST00000485349.6:n.3934del
ENST00000491994.2:c.3458del	ENSP00000417586.2:p.Gly1153AlafsTer2
ENST00000494058.6:n.3760del
ENST00000697831.1:c.3389del	ENSP00000513453.1:p.Gly1130AlafsTer2
ENST00000697832.1:n.3611del
ENST00000697833.1:c.*406del	ENSP00000513454.1:n.*406del
ENST00000697834.1:n.4082del
ENST00000697835.1:c.*2976del	ENSP00000513455.1:n.*2976del
ENST00000697836.1:n.3789del
ENST00000697837.1:c.*574del	ENSP00000513456.1:n.*574del
ENST00000697838.1:c.3323del	ENSP00000513457.1:p.Gly1108AlafsTer2
ENST00000697839.1:n.4176del
ENST00000697840.1:c.3494del	ENSP00000513458.1:p.Gly1165AlafsTer2
ENST00000697841.1:n.4275del
ENST00000697842.1:n.3713del
ENST00000375394.7:c.3458del MANE Select	ENSP00000364543.2:p.Gly1153AlafsTer2
ENST00000375394.6:c.3458del	ENSP00000364543.2:p.Gly1153AlafsTer2
ENST00000465703.5:n.4094del
ENST00000470453.1:n.382+22del
ENST00000471818.1:n.387del
ENST00000474839.5:c.*2830del	ENSP00000420470.1:n.*2830del
ENST00000483553.5:c.894del
ENST00000485349.5:n.664del
ENST00000491994.1:c.453del
NM_006929.4:c.3458del	NP_008860.4:p.Gly1153AlafsTer2
XR_001743586.2:n.3557del
XR_926301.3:n.3474del
NM_006929.5:c.3458del MANE Select	NP_008860.4:p.Gly1153AlafsTer2