Canonical Allele Identifier: CA257407313

Gene: APEX1

Linked Data

• dbSNP Id: rs746510531
• gnomAD v2: 14-20924321-ACC-A
• gnomAD v3: 14-20456162-ACC-A
• gnomAD v4: 14-20456162-ACC-A
• MyVariant Identifiers: chr14:g.20924322_20924323del (hg19) ; chr14:g.20456163_20456164del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456165_20456166del , CM000676.2:g.20456165_20456166del	GRCh38
NC_000014.8:g.20924324_20924325del , CM000676.1:g.20924324_20924325del	GRCh37
NC_000014.7:g.19994164_19994165del	NCBI36
NG_008718.1:g.6035_6036del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216714.8:c.246+64_246+65del MANE Select	ENSP00000216714.3:n.246+64_246+65del
ENST00000216714.7:c.246+64_246+65del	ENSP00000216714.3:n.246+64_246+65del
ENST00000398030.8:c.246+64_246+65del	ENSP00000381111.4:n.246+64_246+65del
ENST00000438886.1:c.95+64_95+65del
ENST00000553555.5:n.666+64_666+65del
ENST00000553681.5:c.246+64_246+65del	ENSP00000451327.1:n.246+64_246+65del
ENST00000554325.1:c.*166+64_*166+65del	ENSP00000450604.1:n.*166+64_*166+65del
ENST00000554813.5:n.312+64_312+65del
ENST00000555306.5:n.693+64_693+65del
ENST00000555414.5:c.246+64_246+65del	ENSP00000451979.1:n.246+64_246+65del
ENST00000555839.5:c.246+64_246+65del	ENSP00000452460.1:n.246+64_246+65del
ENST00000556054.5:c.246+64_246+65del	ENSP00000451170.1:n.246+64_246+65del
ENST00000557054.1:c.27+493_27+494del	ENSP00000452212.2:n.27+493_27+494del
ENST00000557150.5:c.195+64_195+65del	ENSP00000452418.1:n.195+64_195+65del
ENST00000557159.5:n.862+64_862+65del
ENST00000557181.5:c.246+64_246+65del	ENSP00000452304.1:n.246+64_246+65del
ENST00000557344.5:c.246+64_246+65del	ENSP00000452137.1:n.246+64_246+65del
ENST00000557365.1:n.326+64_326+65del
ENST00000557592.5:c.195+64_195+65del	ENSP00000451060.1:n.195+64_195+65del
NM_001244249.1:c.246+64_246+65del	NP_001231178.1:n.246+64_246+65del
NM_001641.3:c.246+64_246+65del	NP_001632.2:n.246+64_246+65del
NM_080648.2:c.246+64_246+65del	NP_542379.1:n.246+64_246+65del
NM_080649.2:c.246+64_246+65del	NP_542380.1:n.246+64_246+65del
XM_005267581.3:c.246+64_246+65del	XP_005267638.1:n.246+64_246+65del
XM_005267582.3:c.195+64_195+65del	XP_005267639.1:n.195+64_195+65del
NM_001641.4:c.246+64_246+65del MANE Select	NP_001632.2:n.246+64_246+65del
NM_001244249.2:c.246+64_246+65del	NP_001231178.1:n.246+64_246+65del
NM_080648.3:c.246+64_246+65del	NP_542379.1:n.246+64_246+65del
NM_080649.3:c.246+64_246+65del	NP_542380.1:n.246+64_246+65del