Canonical Allele Identifier: CA2580615612

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 1627960
• ClinVar RCV Id: RCV002123301
• dbSNP Id: rs878853632

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884923_2884940dup , CM000673.2:g.2884923_2884940dup	GRCh38
NC_000011.9:g.2906153_2906170dup , CM000673.1:g.2906153_2906170dup	GRCh37
NC_000011.8:g.2862729_2862746dup	NCBI36
NG_008022.1:g.5831_5848dup , LRG_533:g.5831_5848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+699_142+716dup
ENST00000380725.2:c.255+267_255+284dup	ENSP00000370101.1:n.255+267_255+284dup
ENST00000414822.8:c.555_572dup	ENSP00000413720.3:p.Ala191_Pro192insProAlaProAlaProAla
ENST00000430149.3:c.555_572dup	ENSP00000411552.2:p.Ala191_Pro192insProAlaProAlaProAla
ENST00000440480.8:c.522_539dup MANE Select	ENSP00000411257.2:p.Ala180_Pro181insProAlaProAlaProAla
ENST00000647251.1:c.255+267_255+284dup	ENSP00000496631.1:n.255+267_255+284dup
ENST00000380725.1:c.255+267_255+284dup	ENSP00000370101.1:n.255+267_255+284dup
ENST00000414822.7:c.555_572dup	ENSP00000413720.3:p.Ala191_Pro192insProAlaProAlaProAla
ENST00000430149.2:c.555_572dup	ENSP00000411552.2:p.Ala191_Pro192insProAlaProAlaProAla
ENST00000440480.6:c.522_539dup	ENSP00000411257.2:p.Ala180_Pro181insProAlaProAlaProAla
NM_000076.2:c.555_572dup , LRG_533t1:c.555_572dup	NP_000067.1:p.Ala191_Pro192insProAlaProAlaProAla
NM_001122630.1:c.522_539dup	NP_001116102.1:p.Ala180_Pro181insProAlaProAlaProAla
NM_001122631.1:c.522_539dup	NP_001116103.1:p.Ala180_Pro181insProAlaProAlaProAla
XM_005252732.3:c.255+267_255+284dup	XP_005252789.1:n.255+267_255+284dup
NM_001362474.1:c.555_572dup	NP_001349403.1:p.Ala191_Pro192insProAlaProAlaProAla
NM_001362475.1:c.255+267_255+284dup	NP_001349404.1:n.255+267_255+284dup
NM_001122630.2:c.522_539dup MANE Select	NP_001116102.1:p.Ala180_Pro181insProAlaProAlaProAla
NM_001122631.2:c.522_539dup	NP_001116103.1:p.Ala180_Pro181insProAlaProAlaProAla
NM_001362474.2:c.555_572dup	NP_001349403.1:p.Ala191_Pro192insProAlaProAlaProAla
NM_001362475.2:c.255+267_255+284dup	NP_001349404.1:n.255+267_255+284dup