Canonical Allele Identifier: CA612862161

Gene: APEX1

Linked Data

• dbSNP Id: rs1267091681
• gnomAD v2: 14-20925112-TTA-T
• gnomAD v3: 14-20456953-TTA-T
• gnomAD v4: 14-20456953-TTA-T
• MyVariant Identifiers: chr14:g.20925113_20925114del (hg19) ; chr14:g.20456954_20456955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456956_20456957del , CM000676.2:g.20456956_20456957del	GRCh38
NC_000014.8:g.20925115_20925116del , CM000676.1:g.20925115_20925116del	GRCh37
NC_000014.7:g.19994955_19994956del	NCBI36
NG_008718.1:g.6826_6827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.440-35_440-34del MANE Select	ENSP00000216714.3:n.440-35_440-34del
ENST00000216714.7:c.440-35_440-34del	ENSP00000216714.3:n.440-35_440-34del
ENST00000398030.8:c.440-35_440-34del	ENSP00000381111.4:n.440-35_440-34del
ENST00000438886.1:c.288+96_288+97del
ENST00000553555.5:n.860-35_860-34del
ENST00000553681.5:c.440-35_440-34del	ENSP00000451327.1:n.440-35_440-34del
ENST00000554813.5:n.506-35_506-34del
ENST00000555306.5:n.887-35_887-34del
ENST00000555414.5:c.440-35_440-34del	ENSP00000451979.1:n.440-35_440-34del
ENST00000555839.5:c.439+96_439+97del	ENSP00000452460.1:n.439+96_439+97del
ENST00000556054.5:c.440-35_440-34del	ENSP00000451170.1:n.440-35_440-34del
ENST00000557054.1:c.28-167_28-166del	ENSP00000452212.2:n.28-167_28-166del
ENST00000557150.5:c.389-35_389-34del	ENSP00000452418.1:n.389-35_389-34del
ENST00000557159.5:n.1056-35_1056-34del
ENST00000557365.1:n.520-35_520-34del
ENST00000557592.5:c.389-35_389-34del	ENSP00000451060.1:n.389-35_389-34del
NM_001244249.1:c.440-35_440-34del	NP_001231178.1:n.440-35_440-34del
NM_001641.3:c.440-35_440-34del	NP_001632.2:n.440-35_440-34del
NM_080648.2:c.440-35_440-34del	NP_542379.1:n.440-35_440-34del
NM_080649.2:c.440-35_440-34del	NP_542380.1:n.440-35_440-34del
XM_005267581.3:c.440-35_440-34del	XP_005267638.1:n.440-35_440-34del
XM_005267582.3:c.389-35_389-34del	XP_005267639.1:n.389-35_389-34del
NM_001641.4:c.440-35_440-34del MANE Select	NP_001632.2:n.440-35_440-34del
NM_001244249.2:c.440-35_440-34del	NP_001231178.1:n.440-35_440-34del
NM_080648.3:c.440-35_440-34del	NP_542379.1:n.440-35_440-34del
NM_080649.3:c.440-35_440-34del	NP_542380.1:n.440-35_440-34del