Canonical Allele Identifier: CA566693088

Gene: SKIC2

Linked Data

• dbSNP Id: rs1562671463
• gnomAD v2: 6-31937127-CG-C
• gnomAD v4: 6-31969350-CG-C
• MyVariant Identifiers: chr6:g.31937128del (hg19) ; chr6:g.31969351del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969352del , CM000668.2:g.31969352del	GRCh38
NC_000006.11:g.31937129del , CM000668.1:g.31937129del	GRCh37
NC_000006.10:g.32045108del	NCBI36
NG_032652.1:g.15549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2426del	ENSP00000419905.1:n.*2426del
ENST00000483553.6:c.*439del	ENSP00000420332.2:n.*439del
ENST00000485349.6:n.3948del
ENST00000491994.2:c.3472del	ENSP00000417586.2:p.Val1158TrpfsTer8
ENST00000494058.6:n.3774del
ENST00000697831.1:c.3403del	ENSP00000513453.1:p.Val1135TrpfsTer8
ENST00000697832.1:n.3625del
ENST00000697833.1:c.*420del	ENSP00000513454.1:n.*420del
ENST00000697834.1:n.4096del
ENST00000697835.1:c.*2990del	ENSP00000513455.1:n.*2990del
ENST00000697836.1:n.3803del
ENST00000697837.1:c.*588del	ENSP00000513456.1:n.*588del
ENST00000697838.1:c.3337del	ENSP00000513457.1:p.Val1113TrpfsTer8
ENST00000697839.1:n.4190del
ENST00000697840.1:c.3508del	ENSP00000513458.1:p.Val1170TrpfsTer8
ENST00000697841.1:n.4289del
ENST00000697842.1:n.3727del
ENST00000375394.7:c.3472del MANE Select	ENSP00000364543.2:p.Val1158TrpfsTer8
ENST00000375394.6:c.3472del	ENSP00000364543.2:p.Val1158TrpfsTer8
ENST00000465703.5:n.4108del
ENST00000470453.1:n.382+36del
ENST00000471818.1:n.401del
ENST00000474839.5:c.*2844del	ENSP00000420470.1:n.*2844del
ENST00000483553.5:c.908del
ENST00000485349.5:n.678del
ENST00000491994.1:c.467del
NM_006929.4:c.3472del	NP_008860.4:p.Val1158TrpfsTer8
XR_001743586.2:n.3571del
XR_926301.3:n.3488del
NM_006929.5:c.3472del MANE Select	NP_008860.4:p.Val1158TrpfsTer8