Canonical Allele Identifier: CA2578573100

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960254_31960255del , CM000668.2:g.31960254_31960255del	GRCh38
NC_000006.11:g.31928031_31928032del , CM000668.1:g.31928031_31928032del	GRCh37
NC_000006.10:g.32036010_32036011del	NCBI36
NG_032652.1:g.6451_6452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.271_272del	ENSP00000419905.1:p.Leu91GlyfsTer?
ENST00000483553.6:c.271_272del	ENSP00000420332.2:p.Leu91GlyfsTer?
ENST00000485349.6:n.312_313del
ENST00000491994.2:c.271_272del	ENSP00000417586.2:p.Leu91GlyfsTer?
ENST00000494058.6:n.328_329del
ENST00000697831.1:c.271_272del	ENSP00000513453.1:p.Leu91GlyfsTer?
ENST00000697832.1:n.347_348del
ENST00000697833.1:c.271_272del	ENSP00000513454.1:p.Leu91GlyfsTer?
ENST00000697834.1:n.323_324del
ENST00000697835.1:c.290_291del	ENSP00000513455.1:p.Phe97TrpfsTer?
ENST00000697836.1:n.307_308del
ENST00000697837.1:c.271_272del	ENSP00000513456.1:p.Leu91GlyfsTer?
ENST00000697838.1:c.136_137del	ENSP00000513457.1:p.Leu46GlyfsTer?
ENST00000697839.1:n.293_294del
ENST00000697840.1:c.271_272del	ENSP00000513458.1:p.Leu91GlyfsTer?
ENST00000697841.1:n.282_283del
ENST00000697842.1:n.271_272del
ENST00000375394.7:c.271_272del MANE Select	ENSP00000364543.2:p.Leu91GlyfsTer?
ENST00000375394.6:c.271_272del	ENSP00000364543.2:p.Leu91GlyfsTer?
ENST00000461073.5:c.271_272del	ENSP00000419905.1:p.Leu91GlyfsTer?
ENST00000465703.5:n.323_324del
ENST00000474839.5:c.127-787_127-786del	ENSP00000420470.1:n.127-787_127-786del
ENST00000488648.5:n.347_348del
ENST00000628157.1:c.127-787_127-786del	ENSP00000485707.1:n.127-787_127-786del
NM_006929.4:c.271_272del	NP_008860.4:p.Leu91GlyfsTer?
XM_006715168.2:c.271_272del	XP_006715231.1:p.Leu91GlyfsTer?
XM_011514815.1:c.271_272del	XP_011513117.1:p.Leu91GlyfsTer?
XR_926301.1:n.359_360del
XM_011514815.3:c.271_272del	XP_011513117.1:p.Leu91GlyfsTer?
XR_001743586.2:n.307_308del
XR_926301.3:n.307_308del
NM_006929.5:c.271_272del MANE Select	NP_008860.4:p.Leu91GlyfsTer?