Canonical Allele Identifier: CA862174474

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1253299544
• gnomAD v4: 9-21975111-G-GCA
• MyVariant Identifiers: chr9:g.21975110_21975111insCA (hg19) ; chr9:g.21975111_21975112insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21975113_21975114dup , CM000671.2:g.21975113_21975114dup	GRCh38
NC_000009.11:g.21975112_21975113dup , CM000671.1:g.21975112_21975113dup	GRCh37
NC_000009.10:g.21965112_21965113dup	NCBI36
NG_007485.1:g.24379_24380dup , LRG_11:g.24379_24380dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-54320_348-54319dup	ENSP00000385916.2:n.348-54320_348-54319dup
ENST00000579755.2:c.194-3905_194-3904dup MANE Plus Clinical	ENSP00000462950.1:n.194-3905_194-3904dup
ENST00000361570.4:c.194-3905_194-3904dup	ENSP00000355153.4:n.194-3905_194-3904dup
ENST00000404796.2:c.348-54320_348-54319dup	ENSP00000385916.2:n.348-54320_348-54319dup
ENST00000494262.5:c.-3-3905_-3-3904dup	ENSP00000464952.1:n.-3-3905_-3-3904dup
ENST00000498628.6:c.-3-3905_-3-3904dup	ENSP00000467857.1:n.-3-3905_-3-3904dup
ENST00000530628.2:c.194-3905_194-3904dup	ENSP00000432664.2:n.194-3905_194-3904dup
ENST00000579755.1:c.194-3905_194-3904dup	ENSP00000462950.1:n.194-3905_194-3904dup
NM_000077.4:c.-286_-285dup , LRG_11t1:c.-286_-285dup	NP_000068.1:n.-286_-285dup
NM_001195132.1:c.-286_-285dup	NP_001182061.1:n.-286_-285dup
NM_058195.3:c.194-3905_194-3904dup , LRG_11t2:c.194-3905_194-3904dup	NP_478102.2:n.194-3905_194-3904dup
XM_011517675.1:c.-286_-285dup	XP_011515977.1:n.-286_-285dup
XM_011517676.1:c.-286_-285dup	XP_011515978.1:n.-286_-285dup
XM_011517679.1:c.-3-3905_-3-3904dup	XP_011515981.1:n.-3-3905_-3-3904dup
XR_929159.1:n.116_117dup
XR_929161.1:n.341-3905_341-3904dup
XR_929162.1:n.341-3905_341-3904dup
XR_929163.1:n.290-3905_290-3904dup
NM_001363763.1:c.-3-3905_-3-3904dup	NP_001350692.1:n.-3-3905_-3-3904dup
XM_011517675.2:c.-286_-285dup	XP_011515977.1:n.-286_-285dup
XM_011517676.2:c.-286_-285dup	XP_011515978.1:n.-286_-285dup
XR_929159.2:n.45_46dup
NM_001363763.2:c.-3-3905_-3-3904dup	NP_001350692.1:n.-3-3905_-3-3904dup
NM_058195.4:c.194-3905_194-3904dup MANE Plus Clinical	NP_478102.2:n.194-3905_194-3904dup