Canonical Allele Identifier: CA7081557

Gene: APEX1

Linked Data

• dbSNP Id: rs748644879
• ExAC: 14:20925131 TTC / T
• gnomAD v2: 14-20925131-TTC-T
• gnomAD v3: 14-20456972-TTC-T
• gnomAD v4: 14-20456972-TTC-T
• MyVariant Identifiers: chr14:g.20925132_20925133del (hg19) ; chr14:g.20456973_20456974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456974_20456975del , CM000676.2:g.20456974_20456975del	GRCh38
NC_000014.8:g.20925133_20925134del , CM000676.1:g.20925133_20925134del	GRCh37
NC_000014.7:g.19994973_19994974del	NCBI36
NG_008718.1:g.6844_6845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.440-17_440-16del MANE Select	ENSP00000216714.3:n.440-17_440-16del
ENST00000216714.7:c.440-17_440-16del	ENSP00000216714.3:n.440-17_440-16del
ENST00000398030.8:c.440-17_440-16del	ENSP00000381111.4:n.440-17_440-16del
ENST00000438886.1:c.289-86_289-85del
ENST00000553555.5:n.860-17_860-16del
ENST00000553681.5:c.440-17_440-16del	ENSP00000451327.1:n.440-17_440-16del
ENST00000554813.5:n.506-17_506-16del
ENST00000555306.5:n.887-17_887-16del
ENST00000555414.5:c.440-17_440-16del	ENSP00000451979.1:n.440-17_440-16del
ENST00000555839.5:c.440-104_440-103del	ENSP00000452460.1:n.440-104_440-103del
ENST00000556054.5:c.440-17_440-16del	ENSP00000451170.1:n.440-17_440-16del
ENST00000557054.1:c.28-149_28-148del	ENSP00000452212.2:n.28-149_28-148del
ENST00000557150.5:c.389-17_389-16del	ENSP00000452418.1:n.389-17_389-16del
ENST00000557159.5:n.1056-17_1056-16del
ENST00000557365.1:n.520-17_520-16del
ENST00000557592.5:c.389-17_389-16del	ENSP00000451060.1:n.389-17_389-16del
NM_001244249.1:c.440-17_440-16del	NP_001231178.1:n.440-17_440-16del
NM_001641.3:c.440-17_440-16del	NP_001632.2:n.440-17_440-16del
NM_080648.2:c.440-17_440-16del	NP_542379.1:n.440-17_440-16del
NM_080649.2:c.440-17_440-16del	NP_542380.1:n.440-17_440-16del
XM_005267581.3:c.440-17_440-16del	XP_005267638.1:n.440-17_440-16del
XM_005267582.3:c.389-17_389-16del	XP_005267639.1:n.389-17_389-16del
NM_001641.4:c.440-17_440-16del MANE Select	NP_001632.2:n.440-17_440-16del
NM_001244249.2:c.440-17_440-16del	NP_001231178.1:n.440-17_440-16del
NM_080648.3:c.440-17_440-16del	NP_542379.1:n.440-17_440-16del
NM_080649.3:c.440-17_440-16del	NP_542380.1:n.440-17_440-16del