Canonical Allele Identifier: CA7083181

Gene: ANG RNASE4 EGILA

Linked Data

• dbSNP Id: rs769750815
• ExAC: 14:21162087 GCGGGGTTCAGAAA / G
• gnomAD v2: 14-21162087-GCGGGGTTCAGAAA-G
• gnomAD v4: 14-20693928-GCGGGGTTCAGAAA-G
• MyVariant Identifiers: chr14:g.21162088_21162100del (hg19) ; chr14:g.20693929_20693941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20693931_20693943del , CM000676.2:g.20693931_20693943del	GRCh38
NC_000014.8:g.21162090_21162102del , CM000676.1:g.21162090_21162102del	GRCh37
NC_000014.7:g.20231930_20231942del	NCBI36
NG_008717.2:g.14755_14767del , LRG_653:g.14755_14767del
NG_033053.1:g.14719_14731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397990.5:c.367_379del (ANG) MANE Select	ENSP00000381077.4:p.Gly123LeufsTer?
ENST00000555835.3:c.-17-5424_-17-5412del (RNASE4) MANE Select	ENSP00000452245.1:n.-17-5424_-17-5412del
ENST00000336811.10:c.367_379del (ANG)	ENSP00000336762.6:p.Gly123LeufsTer?
ENST00000397990.4:c.367_379del (ANG)	ENSP00000381077.4:p.Gly123LeufsTer?
ENST00000397995.2:c.-17-5424_-17-5412del (RNASE4)	ENSP00000381081.2:n.-17-5424_-17-5412del
ENST00000553909.1:c.86+281_86+293del	ENSP00000477037.1:n.86+281_86+293del
ENST00000554073.1:n.146-4935_146-4923del (ANG)
ENST00000555597.1:c.-18+5057_-18+5069del (RNASE4)	ENSP00000451624.1:n.-18+5057_-18+5069del
ENST00000555835.2:c.-17-5424_-17-5412del (RNASE4)	ENSP00000452245.1:n.-17-5424_-17-5412del
NM_001097577.2:c.367_379del (ANG)	NP_001091046.1:p.Gly123LeufsTer?
NM_001145.4:c.367_379del , LRG_653t1:c.367_379del (ANG)	NP_001136.1:p.Gly123LeufsTer?
NM_001282192.1:c.-18+281_-18+293del (RNASE4)	NP_001269121.1:n.-18+281_-18+293del
NM_001282193.1:c.-17-5424_-17-5412del (RNASE4)	NP_001269122.1:n.-17-5424_-17-5412del
NM_002937.4:c.-17-5424_-17-5412del (RNASE4)	NP_002928.1:n.-17-5424_-17-5412del
NM_194431.2:c.-18+5057_-18+5069del (RNASE4)	NP_919412.1:n.-18+5057_-18+5069del
NM_002937.5:c.-17-5424_-17-5412del (RNASE4) MANE Select	NP_002928.1:n.-17-5424_-17-5412del
NM_001097577.3:c.367_379del (ANG) MANE Select	NP_001091046.1:p.Gly123LeufsTer?
NM_001282192.2:c.-18+281_-18+293del (RNASE4)	NP_001269121.1:n.-18+281_-18+293del
NM_001282193.2:c.-17-5424_-17-5412del (RNASE4)	NP_001269122.1:n.-17-5424_-17-5412del
NM_194431.3:c.-18+5057_-18+5069del (RNASE4)	NP_919412.1:n.-18+5057_-18+5069del
NM_001385271.1:c.367_379del (ANG)	NP_001372200.1:p.Gly123LeufsTer?
NM_001385272.1:c.367_379del (ANG)	NP_001372201.1:p.Gly123LeufsTer?
NM_001385273.1:c.367_379del (ANG)	NP_001372202.1:p.Gly123LeufsTer?
NM_001385274.1:c.367_379del (ANG)	NP_001372203.1:p.Gly123LeufsTer?
NR_174964.1:n.467-192_467-180del (EGILA)