Canonical Allele Identifier: CA10636808

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 307682
• ClinVar RCV Id: RCV000377049
• dbSNP Id: rs886049084
• gnomAD v2: 12-12874513-AGATCT-A
• gnomAD v3: 12-12721579-AGATCT-A
• gnomAD v4: 12-12721579-AGATCT-A
• MyVariant Identifiers: chr12:g.12874515_12874519del (hg19) ; chr12:g.12874514_12874518del (hg19) ; chr12:g.12721581_12721585del (hg38) ; chr12:g.12721580_12721584del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12721581_12721585del , CM000674.2:g.12721581_12721585del	GRCh38
NC_000012.11:g.12874515_12874519del , CM000674.1:g.12874515_12874519del	GRCh37
NC_000012.10:g.12765782_12765786del	NCBI36
NG_016341.1:g.9214_9218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.*2635_*2639del	ENSP00000507272.1:n.*2635_*2639del
ENST00000682620.1:n.2306_2310del
ENST00000684771.1:n.1260_1264del
ENST00000228872.9:c.*554_*558del MANE Select	ENSP00000228872.4:n.*554_*558del
ENST00000228872.8:c.*554_*558del	ENSP00000228872.4:n.*554_*558del
NM_004064.4:c.*554_*558del	NP_004055.1:n.*554_*558del
NM_004064.5:c.*554_*558del MANE Select	NP_004055.1:n.*554_*558del