Canonical Allele Identifier: CA2689596815

Gene: CDKN2A

Linked Data

• gnomAD v4: 9-21967994-TTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21967998_21968001del , CM000671.2:g.21967998_21968001del	GRCh38
NC_000009.11:g.21967997_21968000del , CM000671.1:g.21967997_21968000del	GRCh37
NC_000009.10:g.21957997_21958000del	NCBI36
NG_007485.1:g.31494_31497del , LRG_11:g.31494_31497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*231_*234del MANE Select	ENSP00000307101.5:n.*231_*234del
ENST00000404796.3:c.348-61435_348-61432del	ENSP00000385916.2:n.348-61435_348-61432del
ENST00000579755.2:c.*346_*349del MANE Plus Clinical	ENSP00000462950.1:n.*346_*349del
ENST00000304494.9:c.*231_*234del	ENSP00000307101.5:n.*231_*234del
ENST00000361570.4:c.*231_*234del	ENSP00000355153.4:n.*231_*234del
ENST00000404796.2:c.348-61435_348-61432del	ENSP00000385916.2:n.348-61435_348-61432del
ENST00000579122.1:c.*211_*214del	ENSP00000464202.1:n.*211_*214del
ENST00000579755.1:c.*346_*349del	ENSP00000462950.1:n.*346_*349del
NM_000077.4:c.*231_*234del , LRG_11t1:c.*231_*234del	NP_000068.1:n.*231_*234del
NM_001195132.1:c.*395_*398del	NP_001182061.1:n.*395_*398del
NM_058195.3:c.*346_*349del , LRG_11t2:c.*346_*349del	NP_478102.2:n.*346_*349del
NM_058197.4:c.976_979del	NP_478104.2:n.976_979del
XM_005251343.1:c.*231_*234del	XP_005251400.1:n.*231_*234del
XM_011517679.1:c.*231_*234del	XP_011515981.1:n.*231_*234del
NM_001363763.1:c.*231_*234del	NP_001350692.1:n.*231_*234del
NM_001363763.2:c.*231_*234del	NP_001350692.1:n.*231_*234del
NM_000077.5:c.*231_*234del MANE Select	NP_000068.1:n.*231_*234del
NM_001195132.2:c.*395_*398del	NP_001182061.1:n.*395_*398del
NM_058195.4:c.*346_*349del MANE Plus Clinical	NP_478102.2:n.*346_*349del
NM_058197.5:c.*625_*628del	NP_478104.2:n.*625_*628del