Canonical Allele Identifier: CA1839162500

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971169_21971170delinsGC , CM000671.2:g.21971169_21971170delinsGC	GRCh38
NC_000009.11:g.21971168_21971169delinsGC , CM000671.1:g.21971168_21971169delinsGC	GRCh37
NC_000009.10:g.21961168_21961169delinsGC	NCBI36
NG_007485.1:g.28322_28323delinsGC , LRG_11:g.28322_28323delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.189_190delinsGC MANE Select	ENSP00000307101.5:p.Leu63=
ENST00000404796.3:c.348-58264_348-58263delinsGC	ENSP00000385916.2:n.348-58264_348-58263delinsGC
ENST00000579755.2:c.232_233delinsGC MANE Plus Clinical	ENSP00000462950.1:p.Ala78=
ENST00000304494.9:c.189_190delinsGC	ENSP00000307101.5:p.Leu63=
ENST00000361570.4:c.232_233delinsGC	ENSP00000355153.4:p.Ala78=
ENST00000380150.2:n.163_164delinsGC
ENST00000380151.3:c.463_464delinsGC	ENSP00000369496.3:n.463_464delinsGC
ENST00000404796.2:c.348-58264_348-58263delinsGC	ENSP00000385916.2:n.348-58264_348-58263delinsGC
ENST00000479692.2:c.36_37delinsGC	ENSP00000466887.1:p.Leu12=
ENST00000494262.5:c.36_37delinsGC	ENSP00000464952.1:p.Leu12=
ENST00000497750.1:c.36_37delinsGC	ENSP00000468510.1:p.Leu12=
ENST00000498124.1:c.189_190delinsGC	ENSP00000418915.1:p.Leu63=
ENST00000498628.6:c.36_37delinsGC	ENSP00000467857.1:p.Leu12=
ENST00000530628.2:c.232_233delinsGC	ENSP00000432664.2:p.Ala78=
ENST00000578845.2:c.36_37delinsGC	ENSP00000467390.1:p.Leu12=
ENST00000579122.1:c.189_190delinsGC	ENSP00000464202.1:p.Leu63=
ENST00000579755.1:c.232_233delinsGC	ENSP00000462950.1:p.Ala78=
NM_000077.4:c.189_190delinsGC , LRG_11t1:c.189_190delinsGC	NP_000068.1:p.Leu63=
NM_001195132.1:c.189_190delinsGC	NP_001182061.1:p.Leu63=
NM_058195.3:c.232_233delinsGC , LRG_11t2:c.232_233delinsGC	NP_478102.2:p.Ala78=
NM_058197.4:c.463_464delinsGC	NP_478104.2:n.463_464delinsGC
XM_005251343.1:c.36_37delinsGC	XP_005251400.1:p.Leu12=
XM_011517675.1:c.189_190delinsGC	XP_011515977.1:p.Leu63=
XM_011517676.1:c.189_190delinsGC	XP_011515978.1:p.Leu63=
XM_011517679.1:c.36_37delinsGC	XP_011515981.1:p.Leu12=
XR_929159.1:n.590_591delinsGC
XR_929161.1:n.379_380delinsGC
XR_929162.1:n.379_380delinsGC
XR_929163.1:n.328_329delinsGC
XR_929164.1:n.111_112delinsGC
NM_001363763.1:c.36_37delinsGC	NP_001350692.1:p.Leu12=
XM_011517675.2:c.189_190delinsGC	XP_011515977.1:p.Leu63=
XM_011517676.2:c.189_190delinsGC	XP_011515978.1:p.Leu63=
XR_929159.2:n.519_520delinsGC
NM_001363763.2:c.36_37delinsGC	NP_001350692.1:p.Leu12=
NM_000077.5:c.189_190delinsGC MANE Select	NP_000068.1:p.Leu63=
NM_001195132.2:c.189_190delinsGC	NP_001182061.1:p.Leu63=
NM_058195.4:c.232_233delinsGC MANE Plus Clinical	NP_478102.2:p.Ala78=
NM_058197.5:c.*112_*113delinsGC	NP_478104.2:n.*112_*113delinsGC