Canonical Allele Identifier: CA2678077238

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31959993-TCTTGCCCTTGTTTCAGCTTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31959995_31960015del , CM000668.2:g.31959995_31960015del	GRCh38
NC_000006.11:g.31927772_31927792del , CM000668.1:g.31927772_31927792del	GRCh37
NC_000006.10:g.32035751_32035771del	NCBI36
NG_032652.1:g.6192_6212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.127-15_132del
ENST00000483553.6:c.127-15_132del
ENST00000485349.6:n.168-15_173del
ENST00000491994.2:c.127-15_132del
ENST00000494058.6:n.184-15_189del
ENST00000697831.1:c.127-15_132del
ENST00000697832.1:n.203-15_208del
ENST00000697833.1:c.127-15_132del
ENST00000697834.1:n.179-15_184del
ENST00000697835.1:c.127-15_132del
ENST00000697836.1:n.163-15_168del
ENST00000697837.1:c.127-15_132del
ENST00000697838.1:c.23-46_23-26del	ENSP00000513457.1:n.23-46_23-26del
ENST00000697839.1:n.149-15_154del
ENST00000697840.1:c.127-15_132del
ENST00000697841.1:n.138-15_143del
ENST00000697842.1:n.127-15_132del
ENST00000375394.7:c.127-15_132del
ENST00000375394.6:c.127-15_132del
ENST00000461073.5:c.127-15_132del
ENST00000465703.5:n.179-15_184del
ENST00000474839.5:c.126+595_126+615del	ENSP00000420470.1:n.126+595_126+615del
ENST00000488648.5:n.203-15_208del
ENST00000628157.1:c.126+595_126+615del	ENSP00000485707.1:n.126+595_126+615del
NM_006929.4:c.127-15_132del
XM_006715168.2:c.127-15_132del
XM_011514815.1:c.127-15_132del
XR_926301.1:n.215-15_220del
XM_011514815.3:c.127-15_132del
XR_001743586.2:n.163-15_168del
XR_926301.3:n.163-15_168del
NM_006929.5:c.127-15_132del