Canonical Allele Identifier: CA934495509

Gene: CDKN1C

Linked Data

• gnomAD v3: 11-2884845-GGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGA-G
• gnomAD v4: 11-2884845-GGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884851_2884928del , CM000673.2:g.2884851_2884928del	GRCh38
NC_000011.9:g.2906081_2906158del , CM000673.1:g.2906081_2906158del	GRCh37
NC_000011.8:g.2862657_2862734del	NCBI36
NG_008022.1:g.5843_5920del , LRG_533:g.5843_5920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+711_143-712del
ENST00000380725.2:c.255+279_255+356del	ENSP00000370101.1:n.255+279_255+356del
ENST00000414822.8:c.567_644del	ENSP00000413720.3:p.Pro190_Ala215del
ENST00000430149.3:c.567_644del	ENSP00000411552.2:p.Pro190_Ala215del
ENST00000440480.8:c.534_611del MANE Select	ENSP00000411257.2:p.Pro179_Ala204del
ENST00000647251.1:c.255+279_255+356del	ENSP00000496631.1:n.255+279_255+356del
ENST00000380725.1:c.255+279_255+356del	ENSP00000370101.1:n.255+279_255+356del
ENST00000414822.7:c.567_644del	ENSP00000413720.3:p.Pro190_Ala215del
ENST00000430149.2:c.567_644del	ENSP00000411552.2:p.Pro190_Ala215del
ENST00000440480.6:c.534_611del	ENSP00000411257.2:p.Pro179_Ala204del
NM_000076.2:c.567_644del , LRG_533t1:c.567_644del	NP_000067.1:p.Pro190_Ala215del
NM_001122630.1:c.534_611del	NP_001116102.1:p.Pro179_Ala204del
NM_001122631.1:c.534_611del	NP_001116103.1:p.Pro179_Ala204del
XM_005252732.3:c.255+279_255+356del	XP_005252789.1:n.255+279_255+356del
NM_001362474.1:c.567_644del	NP_001349403.1:p.Pro190_Ala215del
NM_001362475.1:c.255+279_255+356del	NP_001349404.1:n.255+279_255+356del
NM_001122630.2:c.534_611del MANE Select	NP_001116102.1:p.Pro179_Ala204del
NM_001122631.2:c.534_611del	NP_001116103.1:p.Pro179_Ala204del
NM_001362474.2:c.567_644del	NP_001349403.1:p.Pro190_Ala215del
NM_001362475.2:c.255+279_255+356del	NP_001349404.1:n.255+279_255+356del