Canonical Allele Identifier: CA2770525443

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960086_31960093del , CM000668.2:g.31960086_31960093del	GRCh38
NC_000006.11:g.31927863_31927870del , CM000668.1:g.31927863_31927870del	GRCh37
NC_000006.10:g.32035842_32035849del	NCBI36
NG_032652.1:g.6283_6290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.203_210del	ENSP00000419905.1:p.Trp68SerfsTer?
ENST00000483553.6:c.203_210del	ENSP00000420332.2:p.Trp68SerfsTer?
ENST00000485349.6:n.244_251del
ENST00000491994.2:c.203_210del	ENSP00000417586.2:p.Trp68SerfsTer?
ENST00000494058.6:n.260_267del
ENST00000697831.1:c.203_210del	ENSP00000513453.1:p.Trp68SerfsTer?
ENST00000697832.1:n.279_286del
ENST00000697833.1:c.203_210del	ENSP00000513454.1:p.Trp68SerfsTer?
ENST00000697834.1:n.255_262del
ENST00000697835.1:c.203_210del	ENSP00000513455.1:p.Trp68SerfsTer?
ENST00000697836.1:n.239_246del
ENST00000697837.1:c.203_210del	ENSP00000513456.1:p.Trp68SerfsTer?
ENST00000697838.1:c.68_75del	ENSP00000513457.1:p.Trp23SerfsTer?
ENST00000697839.1:n.225_232del
ENST00000697840.1:c.203_210del	ENSP00000513458.1:p.Trp68SerfsTer?
ENST00000697841.1:n.214_221del
ENST00000697842.1:n.203_210del
ENST00000375394.7:c.203_210del MANE Select	ENSP00000364543.2:p.Trp68SerfsTer?
ENST00000375394.6:c.203_210del	ENSP00000364543.2:p.Trp68SerfsTer?
ENST00000461073.5:c.203_210del	ENSP00000419905.1:p.Trp68SerfsTer?
ENST00000465703.5:n.255_262del
ENST00000474839.5:c.126+686_126+693del	ENSP00000420470.1:n.126+686_126+693del
ENST00000488648.5:n.279_286del
ENST00000628157.1:c.126+686_126+693del	ENSP00000485707.1:n.126+686_126+693del
NM_006929.4:c.203_210del	NP_008860.4:p.Trp68SerfsTer?
XM_006715168.2:c.203_210del	XP_006715231.1:p.Trp68SerfsTer?
XM_011514815.1:c.203_210del	XP_011513117.1:p.Trp68SerfsTer?
XR_926301.1:n.291_298del
XM_011514815.3:c.203_210del	XP_011513117.1:p.Trp68SerfsTer?
XR_001743586.2:n.239_246del
XR_926301.3:n.239_246del
NM_006929.5:c.203_210del MANE Select	NP_008860.4:p.Trp68SerfsTer?