Canonical Allele Identifier: CA2575472916

Gene: ANG RNASE4 EGILA

Linked Data

• ClinVar Variation Id: 2765172
• ClinVar RCV Id: RCV003578217
• gnomAD v4: 14-20693681-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20693681_20693682insCA , CM000676.2:g.20693681_20693682insCA	GRCh38
NC_000014.8:g.21161840_21161841insCA , CM000676.1:g.21161840_21161841insCA	GRCh37
NC_000014.7:g.20231680_20231681insCA	NCBI36
NG_008717.2:g.14505_14506insCA , LRG_653:g.14505_14506insCA
NG_033053.1:g.14469_14470insCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000397990.5:c.117_118insCA (ANG) MANE Select	ENSP00000381077.4:p.Ala40GlnfsTer16
ENST00000555835.3:c.-17-5674_-17-5673insCA (RNASE4) MANE Select	ENSP00000452245.1:n.-17-5674_-17-5673insCA
ENST00000336811.10:c.117_118insCA (ANG)	ENSP00000336762.6:p.Ala40GlnfsTer16
ENST00000397990.4:c.117_118insCA (ANG)	ENSP00000381077.4:p.Ala40GlnfsTer16
ENST00000397995.2:c.-17-5674_-17-5673insCA (RNASE4)	ENSP00000381081.2:n.-17-5674_-17-5673insCA
ENST00000553909.1:c.86+31_86+32insCA	ENSP00000477037.1:n.86+31_86+32insCA
ENST00000554073.1:n.146-5185_146-5184insCA (ANG)
ENST00000555597.1:c.-18+4807_-18+4808insCA (RNASE4)	ENSP00000451624.1:n.-18+4807_-18+4808insCA
ENST00000555835.2:c.-17-5674_-17-5673insCA (RNASE4)	ENSP00000452245.1:n.-17-5674_-17-5673insCA
NM_001097577.2:c.117_118insCA (ANG)	NP_001091046.1:p.Ala40GlnfsTer16
NM_001145.4:c.117_118insCA , LRG_653t1:c.117_118insCA (ANG)	NP_001136.1:p.Ala40GlnfsTer16
NM_001282192.1:c.-18+31_-18+32insCA (RNASE4)	NP_001269121.1:n.-18+31_-18+32insCA
NM_001282193.1:c.-17-5674_-17-5673insCA (RNASE4)	NP_001269122.1:n.-17-5674_-17-5673insCA
NM_002937.4:c.-17-5674_-17-5673insCA (RNASE4)	NP_002928.1:n.-17-5674_-17-5673insCA
NM_194431.2:c.-18+4807_-18+4808insCA (RNASE4)	NP_919412.1:n.-18+4807_-18+4808insCA
NM_002937.5:c.-17-5674_-17-5673insCA (RNASE4) MANE Select	NP_002928.1:n.-17-5674_-17-5673insCA
NM_001097577.3:c.117_118insCA (ANG) MANE Select	NP_001091046.1:p.Ala40GlnfsTer16
NM_001282192.2:c.-18+31_-18+32insCA (RNASE4)	NP_001269121.1:n.-18+31_-18+32insCA
NM_001282193.2:c.-17-5674_-17-5673insCA (RNASE4)	NP_001269122.1:n.-17-5674_-17-5673insCA
NM_194431.3:c.-18+4807_-18+4808insCA (RNASE4)	NP_919412.1:n.-18+4807_-18+4808insCA
NM_001385271.1:c.117_118insCA (ANG)	NP_001372200.1:p.Ala40GlnfsTer16
NM_001385272.1:c.117_118insCA (ANG)	NP_001372201.1:p.Ala40GlnfsTer16
NM_001385273.1:c.117_118insCA (ANG)	NP_001372202.1:p.Ala40GlnfsTer16
NM_001385274.1:c.117_118insCA (ANG)	NP_001372203.1:p.Ala40GlnfsTer16
NR_174964.1:n.534_535insTG (EGILA)