Canonical Allele Identifier: CA2678078933

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969661-GGCTACCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969667_31969674del , CM000668.2:g.31969667_31969674del	GRCh38
NC_000006.11:g.31937444_31937451del , CM000668.1:g.31937444_31937451del	GRCh37
NC_000006.10:g.32045423_32045430del	NCBI36
NG_032652.1:g.15864_15871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2741_*2748del	ENSP00000419905.1:n.*2741_*2748del
ENST00000485349.6:n.4169_4176del
ENST00000491994.2:c.*235_*242del	ENSP00000417586.2:n.*235_*242del
ENST00000494058.6:n.3995_4002del
ENST00000697831.1:c.3624_3631del	ENSP00000513453.1:p.Leu1209AlafsTer?
ENST00000697832.1:n.3846_3853del
ENST00000697834.1:n.4411_4418del
ENST00000697835.1:c.*3211_*3218del	ENSP00000513455.1:n.*3211_*3218del
ENST00000697836.1:n.4047_4054del
ENST00000697837.1:c.*809_*816del	ENSP00000513456.1:n.*809_*816del
ENST00000697838.1:c.3558_3565del	ENSP00000513457.1:p.Leu1187AlafsTer?
ENST00000697839.1:n.4505_4512del
ENST00000697840.1:c.3729_3736del	ENSP00000513458.1:p.Leu1244AlafsTer?
ENST00000697841.1:n.4604_4611del
ENST00000697842.1:n.3948_3955del
ENST00000375394.7:c.3693_3700del MANE Select	ENSP00000364543.2:p.Leu1232AlafsTer?
ENST00000375394.6:c.3693_3700del	ENSP00000364543.2:p.Leu1232AlafsTer?
ENST00000465703.5:n.4423_4430del
ENST00000471818.1:n.622_629del
ENST00000474839.5:c.*3065_*3072del	ENSP00000420470.1:n.*3065_*3072del
ENST00000483553.5:c.1223_1230del
ENST00000491994.1:c.782_789del
NM_006929.4:c.3693_3700del	NP_008860.4:p.Leu1232AlafsTer?
XR_926301.3:n.3709_3716del
NM_006929.5:c.3693_3700del MANE Select	NP_008860.4:p.Leu1232AlafsTer?