Canonical Allele Identifier: CA2678077795

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31960251-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960255dup , CM000668.2:g.31960255dup	GRCh38
NC_000006.11:g.31928032dup , CM000668.1:g.31928032dup	GRCh37
NC_000006.10:g.32036011dup	NCBI36
NG_032652.1:g.6452dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.272dup	ENSP00000419905.1:p.Leu91PhefsTer?
ENST00000483553.6:c.272dup	ENSP00000420332.2:p.Leu91PhefsTer?
ENST00000485349.6:n.313dup
ENST00000491994.2:c.272dup	ENSP00000417586.2:p.Leu91PhefsTer?
ENST00000494058.6:n.329dup
ENST00000697831.1:c.272dup	ENSP00000513453.1:p.Leu91PhefsTer?
ENST00000697832.1:n.348dup
ENST00000697833.1:c.272dup	ENSP00000513454.1:p.Leu91PhefsTer?
ENST00000697834.1:n.324dup
ENST00000697835.1:c.291dup	ENSP00000513455.1:p.Gly98TrpfsTer?
ENST00000697836.1:n.308dup
ENST00000697837.1:c.272dup	ENSP00000513456.1:p.Leu91PhefsTer?
ENST00000697838.1:c.137dup	ENSP00000513457.1:p.Leu46PhefsTer?
ENST00000697839.1:n.294dup
ENST00000697840.1:c.272dup	ENSP00000513458.1:p.Leu91PhefsTer?
ENST00000697841.1:n.283dup
ENST00000697842.1:n.272dup
ENST00000375394.7:c.272dup MANE Select	ENSP00000364543.2:p.Leu91PhefsTer?
ENST00000375394.6:c.272dup	ENSP00000364543.2:p.Leu91PhefsTer?
ENST00000461073.5:c.272dup	ENSP00000419905.1:p.Leu91PhefsTer?
ENST00000465703.5:n.324dup
ENST00000474839.5:c.127-786dup	ENSP00000420470.1:n.127-786dup
ENST00000488648.5:n.348dup
ENST00000628157.1:c.127-786dup	ENSP00000485707.1:n.127-786dup
NM_006929.4:c.272dup	NP_008860.4:p.Leu91PhefsTer?
XM_006715168.2:c.272dup	XP_006715231.1:p.Leu91PhefsTer?
XM_011514815.1:c.272dup	XP_011513117.1:p.Leu91PhefsTer?
XR_926301.1:n.360dup
XM_011514815.3:c.272dup	XP_011513117.1:p.Leu91PhefsTer?
XR_001743586.2:n.308dup
XR_926301.3:n.308dup
NM_006929.5:c.272dup MANE Select	NP_008860.4:p.Leu91PhefsTer?