Canonical Allele Identifier: CA2689599490

Gene: CDKN2A

Linked Data

• gnomAD v4: 9-21975049-A-ATAGCACCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21975049_21975050insTAGCACCTC , CM000671.2:g.21975049_21975050insTAGCACCTC	GRCh38
NC_000009.11:g.21975048_21975049insTAGCACCTC , CM000671.1:g.21975048_21975049insTAGCACCTC	GRCh37
NC_000009.10:g.21965048_21965049insTAGCACCTC	NCBI36
NG_007485.1:g.24442_24443insGAGGTGCTA , LRG_11:g.24442_24443insGAGGTGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-54384_348-54383insTAGCACCTC	ENSP00000385916.2:n.348-54384_348-54383insTAGCACCTC
ENST00000579755.2:c.194-3842_194-3841insGAGGTGCTA MANE Plus Clinical	ENSP00000462950.1:n.194-3842_194-3841insGAGGTGCTA
ENST00000304494.9:c.-223_-222insGAGGTGCTA	ENSP00000307101.5:n.-223_-222insGAGGTGCTA
ENST00000361570.4:c.194-3842_194-3841insGAGGTGCTA	ENSP00000355153.4:n.194-3842_194-3841insGAGGTGCTA
ENST00000404796.2:c.348-54384_348-54383insTAGCACCTC	ENSP00000385916.2:n.348-54384_348-54383insTAGCACCTC
ENST00000494262.5:c.-3-3842_-3-3841insGAGGTGCTA	ENSP00000464952.1:n.-3-3842_-3-3841insGAGGTGCTA
ENST00000498628.6:c.-3-3842_-3-3841insGAGGTGCTA	ENSP00000467857.1:n.-3-3842_-3-3841insGAGGTGCTA
ENST00000530628.2:c.194-3842_194-3841insGAGGTGCTA	ENSP00000432664.2:n.194-3842_194-3841insGAGGTGCTA
ENST00000579755.1:c.194-3842_194-3841insGAGGTGCTA	ENSP00000462950.1:n.194-3842_194-3841insGAGGTGCTA
NM_000077.4:c.-223_-222insGAGGTGCTA , LRG_11t1:c.-223_-222insGAGGTGCTA	NP_000068.1:n.-223_-222insGAGGTGCTA
NM_001195132.1:c.-223_-222insGAGGTGCTA	NP_001182061.1:n.-223_-222insGAGGTGCTA
NM_058195.3:c.194-3842_194-3841insGAGGTGCTA , LRG_11t2:c.194-3842_194-3841insGAGGTGCTA	NP_478102.2:n.194-3842_194-3841insGAGGTGCTA
XM_011517675.1:c.-223_-222insGAGGTGCTA	XP_011515977.1:n.-223_-222insGAGGTGCTA
XM_011517676.1:c.-223_-222insGAGGTGCTA	XP_011515978.1:n.-223_-222insGAGGTGCTA
XM_011517679.1:c.-3-3842_-3-3841insGAGGTGCTA	XP_011515981.1:n.-3-3842_-3-3841insGAGGTGCTA
XR_929159.1:n.179_180insGAGGTGCTA
XR_929161.1:n.341-3842_341-3841insGAGGTGCTA
XR_929162.1:n.341-3842_341-3841insGAGGTGCTA
XR_929163.1:n.290-3842_290-3841insGAGGTGCTA
NM_001363763.1:c.-3-3842_-3-3841insGAGGTGCTA	NP_001350692.1:n.-3-3842_-3-3841insGAGGTGCTA
XM_011517675.2:c.-223_-222insGAGGTGCTA	XP_011515977.1:n.-223_-222insGAGGTGCTA
XM_011517676.2:c.-223_-222insGAGGTGCTA	XP_011515978.1:n.-223_-222insGAGGTGCTA
XR_929159.2:n.108_109insGAGGTGCTA
NM_001363763.2:c.-3-3842_-3-3841insGAGGTGCTA	NP_001350692.1:n.-3-3842_-3-3841insGAGGTGCTA
NM_058195.4:c.194-3842_194-3841insGAGGTGCTA MANE Plus Clinical	NP_478102.2:n.194-3842_194-3841insGAGGTGCTA