Canonical Allele Identifier: CA2678078873

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969548-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969549_31969550del , CM000668.2:g.31969549_31969550del	GRCh38
NC_000006.11:g.31937326_31937327del , CM000668.1:g.31937326_31937327del	GRCh37
NC_000006.10:g.32045305_32045306del	NCBI36
NG_032652.1:g.15746_15747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2623_*2624del	ENSP00000419905.1:n.*2623_*2624del
ENST00000485349.6:n.4051_4052del
ENST00000491994.2:c.*117_*118del	ENSP00000417586.2:n.*117_*118del
ENST00000494058.6:n.3877_3878del
ENST00000697831.1:c.3506_3507del	ENSP00000513453.1:p.Pro1169ArgfsTer13
ENST00000697832.1:n.3728_3729del
ENST00000697833.1:c.*523_*524del	ENSP00000513454.1:n.*523_*524del
ENST00000697834.1:n.4293_4294del
ENST00000697835.1:c.*3093_*3094del	ENSP00000513455.1:n.*3093_*3094del
ENST00000697836.1:n.3929_3930del
ENST00000697837.1:c.*691_*692del	ENSP00000513456.1:n.*691_*692del
ENST00000697838.1:c.3440_3441del	ENSP00000513457.1:p.Pro1147ArgfsTer13
ENST00000697839.1:n.4387_4388del
ENST00000697840.1:c.3611_3612del	ENSP00000513458.1:p.Pro1204ArgfsTer13
ENST00000697841.1:n.4486_4487del
ENST00000697842.1:n.3830_3831del
ENST00000375394.7:c.3575_3576del MANE Select	ENSP00000364543.2:p.Pro1192ArgfsTer13
ENST00000375394.6:c.3575_3576del	ENSP00000364543.2:p.Pro1192ArgfsTer13
ENST00000465703.5:n.4305_4306del
ENST00000470453.1:n.417_418del
ENST00000471818.1:n.504_505del
ENST00000474839.5:c.*2947_*2948del	ENSP00000420470.1:n.*2947_*2948del
ENST00000483553.5:c.1105_1106del
ENST00000491994.1:c.664_665del
NM_006929.4:c.3575_3576del	NP_008860.4:p.Pro1192ArgfsTer13
XR_926301.3:n.3591_3592del
NM_006929.5:c.3575_3576del MANE Select	NP_008860.4:p.Pro1192ArgfsTer13