Canonical Allele Identifier: CA1087494582

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773030974
• gnomAD v3: 6-31969393-GGTT-G
• gnomAD v4: 6-31969393-GGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969396_31969398del , CM000668.2:g.31969396_31969398del	GRCh38
NC_000006.11:g.31937173_31937175del , CM000668.1:g.31937173_31937175del	GRCh37
NC_000006.10:g.32045152_32045154del	NCBI36
NG_032652.1:g.15593_15595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2470_*2472del	ENSP00000419905.1:n.*2470_*2472del
ENST00000483553.6:c.*483_*485del	ENSP00000420332.2:n.*483_*485del
ENST00000485349.6:n.3992_3994del
ENST00000491994.2:c.3516_3518del	ENSP00000417586.2:p.Val1173del
ENST00000494058.6:n.3818_3820del
ENST00000697831.1:c.3447_3449del	ENSP00000513453.1:p.Val1150del
ENST00000697832.1:n.3669_3671del
ENST00000697833.1:c.*464_*466del	ENSP00000513454.1:n.*464_*466del
ENST00000697834.1:n.4140_4142del
ENST00000697835.1:c.*3034_*3036del	ENSP00000513455.1:n.*3034_*3036del
ENST00000697836.1:n.3847_3849del
ENST00000697837.1:c.*632_*634del	ENSP00000513456.1:n.*632_*634del
ENST00000697838.1:c.3381_3383del	ENSP00000513457.1:p.Val1128del
ENST00000697839.1:n.4234_4236del
ENST00000697840.1:c.3552_3554del	ENSP00000513458.1:p.Val1185del
ENST00000697841.1:n.4333_4335del
ENST00000697842.1:n.3771_3773del
ENST00000375394.7:c.3516_3518del MANE Select	ENSP00000364543.2:p.Val1173del
ENST00000375394.6:c.3516_3518del	ENSP00000364543.2:p.Val1173del
ENST00000465703.5:n.4152_4154del
ENST00000470453.1:n.382+80_382+82del
ENST00000471818.1:n.445_447del
ENST00000474839.5:c.*2888_*2890del	ENSP00000420470.1:n.*2888_*2890del
ENST00000483553.5:c.952_954del
ENST00000485349.5:n.722_724del
ENST00000491994.1:c.511_513del
NM_006929.4:c.3516_3518del	NP_008860.4:p.Val1173del
XR_001743586.2:n.3615_3617del
XR_926301.3:n.3532_3534del
NM_006929.5:c.3516_3518del MANE Select	NP_008860.4:p.Val1173del