Canonical Allele Identifier: CA2534217486

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962496_31962498del , CM000668.2:g.31962496_31962498del	GRCh38
NC_000006.11:g.31930273_31930275del , CM000668.1:g.31930273_31930275del	GRCh37
NC_000006.10:g.32038252_32038254del	NCBI36
NG_032652.1:g.8693_8695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*238_*240del	ENSP00000419905.1:n.*238_*240del
ENST00000483553.6:c.1122_1124del	ENSP00000420332.2:p.Asn375del
ENST00000485349.6:n.1163_1165del
ENST00000491994.2:c.1122_1124del	ENSP00000417586.2:p.Asn375del
ENST00000494058.6:n.1179_1181del
ENST00000697831.1:c.1122_1124del	ENSP00000513453.1:p.Asn375del
ENST00000697832.1:n.1198_1200del
ENST00000697833.1:c.1122_1124del	ENSP00000513454.1:p.Asn375del
ENST00000697834.1:n.1174_1176del
ENST00000697835.1:c.*640_*642del	ENSP00000513455.1:n.*640_*642del
ENST00000697836.1:n.1158_1160del
ENST00000697837.1:c.1122_1124del	ENSP00000513456.1:p.Asn375del
ENST00000697838.1:c.987_989del	ENSP00000513457.1:p.Asn330del
ENST00000697839.1:n.1405_1407del
ENST00000697840.1:c.1158_1160del	ENSP00000513458.1:p.Asn387del
ENST00000697841.1:n.1694_1696del
ENST00000697842.1:n.1122_1124del
ENST00000375394.7:c.1122_1124del MANE Select	ENSP00000364543.2:p.Asn375del
ENST00000375394.6:c.1122_1124del	ENSP00000364543.2:p.Asn375del
ENST00000461073.5:c.*238_*240del	ENSP00000419905.1:n.*238_*240del
ENST00000465703.5:n.1435_1437del
ENST00000466290.1:n.383_385del
ENST00000474839.5:c.*494_*496del	ENSP00000420470.1:n.*494_*496del
NM_006929.4:c.1122_1124del	NP_008860.4:p.Asn375del
XM_006715168.2:c.1122_1124del	XP_006715231.1:p.Asn375del
XM_011514815.1:c.1122_1124del	XP_011513117.1:p.Asn375del
XR_926301.1:n.1210_1212del
XM_011514815.3:c.1122_1124del	XP_011513117.1:p.Asn375del
XR_001743586.2:n.1158_1160del
XR_926301.3:n.1158_1160del
NM_006929.5:c.1122_1124del MANE Select	NP_008860.4:p.Asn375del