Canonical Allele Identifier: CA891842860

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 581273
• ClinVar RCV Id: RCV000705049
• dbSNP Id: rs1564929864
• gnomAD v3: 11-2884924-GCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGA-G
• gnomAD v4: 11-2884924-GCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGA-G
• MyVariant Identifiers: chr11:g.2906155_2906226del (hg19) ; chr11:g.2884925_2884996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884950_2885021del , CM000673.2:g.2884950_2885021del	GRCh38
NC_000011.9:g.2906180_2906251del , CM000673.1:g.2906180_2906251del	GRCh37
NC_000011.8:g.2862756_2862827del	NCBI36
NG_008022.1:g.5770_5841del , LRG_533:g.5770_5841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+638_142+709del
ENST00000380725.2:c.255+206_255+277del	ENSP00000370101.1:n.255+206_255+277del
ENST00000414822.8:c.494_565del	ENSP00000413720.3:p.Val165_Pro188del
ENST00000430149.3:c.494_565del	ENSP00000411552.2:p.Val165_Pro188del
ENST00000440480.8:c.461_532del MANE Select	ENSP00000411257.2:p.Val154_Pro177del
ENST00000647251.1:c.255+206_255+277del	ENSP00000496631.1:n.255+206_255+277del
ENST00000380725.1:c.255+206_255+277del	ENSP00000370101.1:n.255+206_255+277del
ENST00000414822.7:c.494_565del	ENSP00000413720.3:p.Val165_Pro188del
ENST00000430149.2:c.494_565del	ENSP00000411552.2:p.Val165_Pro188del
ENST00000440480.6:c.461_532del	ENSP00000411257.2:p.Val154_Pro177del
NM_000076.2:c.494_565del , LRG_533t1:c.494_565del	NP_000067.1:p.Val165_Pro188del
NM_001122630.1:c.461_532del	NP_001116102.1:p.Val154_Pro177del
NM_001122631.1:c.461_532del	NP_001116103.1:p.Val154_Pro177del
XM_005252732.3:c.255+206_255+277del	XP_005252789.1:n.255+206_255+277del
NM_001362474.1:c.494_565del	NP_001349403.1:p.Val165_Pro188del
NM_001362475.1:c.255+206_255+277del	NP_001349404.1:n.255+206_255+277del
NM_001122630.2:c.461_532del MANE Select	NP_001116102.1:p.Val154_Pro177del
NM_001122631.2:c.461_532del	NP_001116103.1:p.Val154_Pro177del
NM_001362474.2:c.494_565del	NP_001349403.1:p.Val165_Pro188del
NM_001362475.2:c.255+206_255+277del	NP_001349404.1:n.255+206_255+277del