Canonical Allele Identifier: CA915947941

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 741842
• ClinVar RCV Id: RCV001410418
• dbSNP Id: rs1590149612
• gnomAD v4: 11-2884882-G-GCCGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884887_2884888insTCCGGG , CM000673.2:g.2884887_2884888insTCCGGG	GRCh38
NC_000011.9:g.2906117_2906118insTCCGGG , CM000673.1:g.2906117_2906118insTCCGGG	GRCh37
NC_000011.8:g.2862693_2862694insTCCGGG	NCBI36
NG_008022.1:g.5883_5884insACCCGG , LRG_533:g.5883_5884insACCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.143-749_143-748insACCCGG
ENST00000380725.2:c.255+319_255+320insACCCGG	ENSP00000370101.1:n.255+319_255+320insACCCGG
ENST00000414822.8:c.607_608insACCCGG	ENSP00000413720.3:p.Pro202_Ala203insAspPro
ENST00000430149.3:c.607_608insACCCGG	ENSP00000411552.2:p.Pro202_Ala203insAspPro
ENST00000440480.8:c.574_575insACCCGG MANE Select	ENSP00000411257.2:p.Pro191_Ala192insAspPro
ENST00000647251.1:c.255+319_255+320insACCCGG	ENSP00000496631.1:n.255+319_255+320insACCCGG
ENST00000380725.1:c.255+319_255+320insACCCGG	ENSP00000370101.1:n.255+319_255+320insACCCGG
ENST00000414822.7:c.607_608insACCCGG	ENSP00000413720.3:p.Pro202_Ala203insAspPro
ENST00000430149.2:c.607_608insACCCGG	ENSP00000411552.2:p.Pro202_Ala203insAspPro
ENST00000440480.6:c.574_575insACCCGG	ENSP00000411257.2:p.Pro191_Ala192insAspPro
NM_000076.2:c.607_608insACCCGG , LRG_533t1:c.607_608insACCCGG	NP_000067.1:p.Pro202_Ala203insAspPro
NM_001122630.1:c.574_575insACCCGG	NP_001116102.1:p.Pro191_Ala192insAspPro
NM_001122631.1:c.574_575insACCCGG	NP_001116103.1:p.Pro191_Ala192insAspPro
XM_005252732.3:c.255+319_255+320insACCCGG	XP_005252789.1:n.255+319_255+320insACCCGG
NM_001362474.1:c.607_608insACCCGG	NP_001349403.1:p.Pro202_Ala203insAspPro
NM_001362475.1:c.255+319_255+320insACCCGG	NP_001349404.1:n.255+319_255+320insACCCGG
NM_001122630.2:c.574_575insACCCGG MANE Select	NP_001116102.1:p.Pro191_Ala192insAspPro
NM_001122631.2:c.574_575insACCCGG	NP_001116103.1:p.Pro191_Ala192insAspPro
NM_001362474.2:c.607_608insACCCGG	NP_001349403.1:p.Pro202_Ala203insAspPro
NM_001362475.2:c.255+319_255+320insACCCGG	NP_001349404.1:n.255+319_255+320insACCCGG