Canonical Allele Identifier: CA2578573585

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969698_31969701del , CM000668.2:g.31969698_31969701del	GRCh38
NC_000006.11:g.31937475_31937478del , CM000668.1:g.31937475_31937478del	GRCh37
NC_000006.10:g.32045454_32045457del	NCBI36
NG_032652.1:g.15895_15898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2772_*2775del	ENSP00000419905.1:n.*2772_*2775del
ENST00000485349.6:n.4200_4203del
ENST00000491994.2:c.*266_*269del	ENSP00000417586.2:n.*266_*269del
ENST00000494058.6:n.4026_4029del
ENST00000697831.1:c.3655_3658del	ENSP00000513453.1:p.Leu1220ThrfsTer8
ENST00000697832.1:n.3877_3880del
ENST00000697834.1:n.4442_4445del
ENST00000697835.1:c.*3242_*3245del	ENSP00000513455.1:n.*3242_*3245del
ENST00000697837.1:c.*840_*843del	ENSP00000513456.1:n.*840_*843del
ENST00000697838.1:c.3589_3592del	ENSP00000513457.1:p.Leu1198ThrfsTer8
ENST00000697839.1:n.4536_4539del
ENST00000697840.1:c.3760_3763del	ENSP00000513458.1:p.Leu1255ThrfsTer8
ENST00000697841.1:n.4635_4638del
ENST00000697842.1:n.3979_3982del
ENST00000375394.7:c.3724_3727del MANE Select	ENSP00000364543.2:p.Leu1243ThrfsTer8
ENST00000375394.6:c.3724_3727del	ENSP00000364543.2:p.Leu1243ThrfsTer8
ENST00000465703.5:n.4454_4457del
ENST00000471818.1:n.653_656del
ENST00000474839.5:c.*3096_*3099del	ENSP00000420470.1:n.*3096_*3099del
ENST00000483553.5:c.1254_1257del
ENST00000491994.1:c.813_816del
NM_006929.4:c.3724_3727del	NP_008860.4:p.Leu1243ThrfsTer8
XR_926301.3:n.3740_3743del
NM_006929.5:c.3724_3727del MANE Select	NP_008860.4:p.Leu1243ThrfsTer8