Canonical Allele Identifier: CA2678078844

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969485-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969486del , CM000668.2:g.31969486del	GRCh38
NC_000006.11:g.31937263del , CM000668.1:g.31937263del	GRCh37
NC_000006.10:g.32045242del	NCBI36
NG_032652.1:g.15683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2560del	ENSP00000419905.1:n.*2560del
ENST00000483553.6:c.*573del	ENSP00000420332.2:n.*573del
ENST00000485349.6:n.4017-29del
ENST00000491994.2:c.*54del	ENSP00000417586.2:n.*54del
ENST00000494058.6:n.3843-29del
ENST00000697831.1:c.3472-29del	ENSP00000513453.1:n.3472-29del
ENST00000697832.1:n.3694-29del
ENST00000697833.1:c.*489-29del	ENSP00000513454.1:n.*489-29del
ENST00000697834.1:n.4230del
ENST00000697835.1:c.*3059-29del	ENSP00000513455.1:n.*3059-29del
ENST00000697836.1:n.3872-6del
ENST00000697837.1:c.*657-29del	ENSP00000513456.1:n.*657-29del
ENST00000697838.1:c.3406-29del	ENSP00000513457.1:n.3406-29del
ENST00000697839.1:n.4324del
ENST00000697840.1:c.3577-29del	ENSP00000513458.1:n.3577-29del
ENST00000697841.1:n.4423del
ENST00000697842.1:n.3796-29del
ENST00000375394.7:c.3541-29del MANE Select	ENSP00000364543.2:n.3541-29del
ENST00000375394.6:c.3541-29del	ENSP00000364543.2:n.3541-29del
ENST00000465703.5:n.4242del
ENST00000470453.1:n.383-29del
ENST00000471818.1:n.470-29del
ENST00000474839.5:c.*2913-29del	ENSP00000420470.1:n.*2913-29del
ENST00000483553.5:c.1042del
ENST00000491994.1:c.601del
NM_006929.4:c.3541-29del	NP_008860.4:n.3541-29del
XR_001743586.2:n.3705del
XR_926301.3:n.3557-29del
NM_006929.5:c.3541-29del MANE Select	NP_008860.4:n.3541-29del