Canonical Allele Identifier: CA7081489

Gene: APEX1

Linked Data

• dbSNP Id: rs754836388
• ExAC: 14:20924312 GGTTTAGTCACCCCTTTTCTCC / G
• gnomAD v2: 14-20924312-GGTTTAGTCACCCCTTTTCTCC-G
• gnomAD v3: 14-20456153-GGTTTAGTCACCCCTTTTCTCC-G
• gnomAD v4: 14-20456153-GGTTTAGTCACCCCTTTTCTCC-G
• MyVariant Identifiers: chr14:g.20924313_20924333del (hg19) ; chr14:g.20456154_20456174del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456160_20456180del , CM000676.2:g.20456160_20456180del	GRCh38
NC_000014.8:g.20924319_20924339del , CM000676.1:g.20924319_20924339del	GRCh37
NC_000014.7:g.19994159_19994179del	NCBI36
NG_008718.1:g.6030_6050del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216714.8:c.246+59_246+79del MANE Select	ENSP00000216714.3:n.246+59_246+79del
ENST00000216714.7:c.246+59_246+79del	ENSP00000216714.3:n.246+59_246+79del
ENST00000398030.8:c.246+59_246+79del	ENSP00000381111.4:n.246+59_246+79del
ENST00000438886.1:c.95+59_95+79del
ENST00000553555.5:n.666+59_666+79del
ENST00000553681.5:c.246+59_246+79del	ENSP00000451327.1:n.246+59_246+79del
ENST00000554325.1:c.*166+59_*166+79del	ENSP00000450604.1:n.*166+59_*166+79del
ENST00000554813.5:n.312+59_312+79del
ENST00000555306.5:n.693+59_693+79del
ENST00000555414.5:c.246+59_246+79del	ENSP00000451979.1:n.246+59_246+79del
ENST00000555839.5:c.246+59_246+79del	ENSP00000452460.1:n.246+59_246+79del
ENST00000556054.5:c.246+59_246+79del	ENSP00000451170.1:n.246+59_246+79del
ENST00000557054.1:c.27+488_27+508del	ENSP00000452212.2:n.27+488_27+508del
ENST00000557150.5:c.195+59_195+79del	ENSP00000452418.1:n.195+59_195+79del
ENST00000557159.5:n.862+59_862+79del
ENST00000557181.5:c.246+59_246+79del	ENSP00000452304.1:n.246+59_246+79del
ENST00000557344.5:c.246+59_246+79del	ENSP00000452137.1:n.246+59_246+79del
ENST00000557365.1:n.326+59_326+79del
ENST00000557592.5:c.195+59_195+79del	ENSP00000451060.1:n.195+59_195+79del
NM_001244249.1:c.246+59_246+79del	NP_001231178.1:n.246+59_246+79del
NM_001641.3:c.246+59_246+79del	NP_001632.2:n.246+59_246+79del
NM_080648.2:c.246+59_246+79del	NP_542379.1:n.246+59_246+79del
NM_080649.2:c.246+59_246+79del	NP_542380.1:n.246+59_246+79del
XM_005267581.3:c.246+59_246+79del	XP_005267638.1:n.246+59_246+79del
XM_005267582.3:c.195+59_195+79del	XP_005267639.1:n.195+59_195+79del
NM_001641.4:c.246+59_246+79del MANE Select	NP_001632.2:n.246+59_246+79del
NM_001244249.2:c.246+59_246+79del	NP_001231178.1:n.246+59_246+79del
NM_080648.3:c.246+59_246+79del	NP_542379.1:n.246+59_246+79del
NM_080649.3:c.246+59_246+79del	NP_542380.1:n.246+59_246+79del