Canonical Allele Identifier: CA2499220887

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 1142432
• ClinVar RCV Id: RCV001480236
• dbSNP Id: rs2133783065
• gnomAD v4: 11-2884860-GGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884879_2884956del , CM000673.2:g.2884879_2884956del	GRCh38
NC_000011.9:g.2906109_2906186del , CM000673.1:g.2906109_2906186del	GRCh37
NC_000011.8:g.2862685_2862762del	NCBI36
NG_008022.1:g.5828_5905del , LRG_533:g.5828_5905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+696_143-727del
ENST00000380725.2:c.255+264_255+341del	ENSP00000370101.1:n.255+264_255+341del
ENST00000414822.8:c.552_629del	ENSP00000413720.3:p.Ala185_Pro210del
ENST00000430149.3:c.552_629del	ENSP00000411552.2:p.Ala185_Pro210del
ENST00000440480.8:c.519_596del MANE Select	ENSP00000411257.2:p.Ala174_Pro199del
ENST00000647251.1:c.255+264_255+341del	ENSP00000496631.1:n.255+264_255+341del
ENST00000380725.1:c.255+264_255+341del	ENSP00000370101.1:n.255+264_255+341del
ENST00000414822.7:c.552_629del	ENSP00000413720.3:p.Ala185_Pro210del
ENST00000430149.2:c.552_629del	ENSP00000411552.2:p.Ala185_Pro210del
ENST00000440480.6:c.519_596del	ENSP00000411257.2:p.Ala174_Pro199del
NM_000076.2:c.552_629del , LRG_533t1:c.552_629del	NP_000067.1:p.Ala185_Pro210del
NM_001122630.1:c.519_596del	NP_001116102.1:p.Ala174_Pro199del
NM_001122631.1:c.519_596del	NP_001116103.1:p.Ala174_Pro199del
XM_005252732.3:c.255+264_255+341del	XP_005252789.1:n.255+264_255+341del
NM_001362474.1:c.552_629del	NP_001349403.1:p.Ala185_Pro210del
NM_001362475.1:c.255+264_255+341del	NP_001349404.1:n.255+264_255+341del
NM_001122630.2:c.519_596del MANE Select	NP_001116102.1:p.Ala174_Pro199del
NM_001122631.2:c.519_596del	NP_001116103.1:p.Ala174_Pro199del
NM_001362474.2:c.552_629del	NP_001349403.1:p.Ala185_Pro210del
NM_001362475.2:c.255+264_255+341del	NP_001349404.1:n.255+264_255+341del