Canonical Allele Identifier: CA566693093

Gene: SKIC2

Linked Data

• dbSNP Id: rs1236521619
• gnomAD v2: 6-31937287-CA-C
• gnomAD v4: 6-31969510-CA-C
• MyVariant Identifiers: chr6:g.31937288del (hg19) ; chr6:g.31969511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969511del , CM000668.2:g.31969511del	GRCh38
NC_000006.11:g.31937288del , CM000668.1:g.31937288del	GRCh37
NC_000006.10:g.32045267del	NCBI36
NG_032652.1:g.15708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2585del	ENSP00000419905.1:n.*2585del
ENST00000485349.6:n.4017-4del
ENST00000491994.2:c.*79del	ENSP00000417586.2:n.*79del
ENST00000494058.6:n.3843-4del
ENST00000697831.1:c.3472-4del	ENSP00000513453.1:n.3472-4del
ENST00000697832.1:n.3694-4del
ENST00000697833.1:c.*489-4del	ENSP00000513454.1:n.*489-4del
ENST00000697834.1:n.4255del
ENST00000697835.1:c.*3059-4del	ENSP00000513455.1:n.*3059-4del
ENST00000697836.1:n.3891del
ENST00000697837.1:c.*657-4del	ENSP00000513456.1:n.*657-4del
ENST00000697838.1:c.3406-4del	ENSP00000513457.1:n.3406-4del
ENST00000697839.1:n.4349del
ENST00000697840.1:c.3577-4del	ENSP00000513458.1:n.3577-4del
ENST00000697841.1:n.4448del
ENST00000697842.1:n.3796-4del
ENST00000375394.7:c.3541-4del MANE Select	ENSP00000364543.2:n.3541-4del
ENST00000375394.6:c.3541-4del	ENSP00000364543.2:n.3541-4del
ENST00000465703.5:n.4267del
ENST00000470453.1:n.383-4del
ENST00000471818.1:n.470-4del
ENST00000474839.5:c.*2913-4del	ENSP00000420470.1:n.*2913-4del
ENST00000483553.5:c.1067del
ENST00000491994.1:c.626del
NM_006929.4:c.3541-4del	NP_008860.4:n.3541-4del
XR_926301.3:n.3557-4del
NM_006929.5:c.3541-4del MANE Select	NP_008860.4:n.3541-4del