Canonical Allele Identifier: CA2575472917
Gene: ANG HGNC NCBI
RNASE4 HGNC NCBI
EGILA HGNC NCBI

Linked Data

gnomAD v4: 14-20693955-T-TTTC
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20693955_20693956insTTC , CM000676.2:g.20693955_20693956insTTC GRCh38
NC_000014.8:g.21162114_21162115insTTC , CM000676.1:g.21162114_21162115insTTC GRCh37
NC_000014.7:g.20231954_20231955insTTC NCBI36
NG_008717.2:g.14779_14780insTTC , LRG_653:g.14779_14780insTTC
NG_033053.1:g.14743_14744insTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000397990.5:c.391_392insTTC (ANG) MANE Select ENSP00000381077.4:p.Cys131delinsPheArg
ENST00000555835.3:c.-17-5400_-17-5399insTTC (RNASE4) MANE Select ENSP00000452245.1:n.-17-5400_-17-5399insTTC
ENST00000336811.10:c.391_392insTTC (ANG) ENSP00000336762.6:p.Cys131delinsPheArg
ENST00000397990.4:c.391_392insTTC (ANG) ENSP00000381077.4:p.Cys131delinsPheArg
ENST00000397995.2:c.-17-5400_-17-5399insTTC (RNASE4) ENSP00000381081.2:n.-17-5400_-17-5399insTTC
ENST00000553909.1:c.86+305_86+306insTTC ENSP00000477037.1:n.86+305_86+306insTTC
ENST00000554073.1:n.146-4911_146-4910insTTC (ANG)
ENST00000555597.1:c.-18+5081_-18+5082insTTC (RNASE4) ENSP00000451624.1:n.-18+5081_-18+5082insTTC
ENST00000555835.2:c.-17-5400_-17-5399insTTC (RNASE4) ENSP00000452245.1:n.-17-5400_-17-5399insTTC
NM_001097577.2:c.391_392insTTC (ANG) NP_001091046.1:p.Cys131delinsPheArg
NM_001145.4:c.391_392insTTC , LRG_653t1:c.391_392insTTC (ANG) NP_001136.1:p.Cys131delinsPheArg
NM_001282192.1:c.-18+305_-18+306insTTC (RNASE4) NP_001269121.1:n.-18+305_-18+306insTTC
NM_001282193.1:c.-17-5400_-17-5399insTTC (RNASE4) NP_001269122.1:n.-17-5400_-17-5399insTTC
NM_002937.4:c.-17-5400_-17-5399insTTC (RNASE4) NP_002928.1:n.-17-5400_-17-5399insTTC
NM_194431.2:c.-18+5081_-18+5082insTTC (RNASE4) NP_919412.1:n.-18+5081_-18+5082insTTC
NM_002937.5:c.-17-5400_-17-5399insTTC (RNASE4) MANE Select NP_002928.1:n.-17-5400_-17-5399insTTC
NM_001097577.3:c.391_392insTTC (ANG) MANE Select NP_001091046.1:p.Cys131delinsPheArg
NM_001282192.2:c.-18+305_-18+306insTTC (RNASE4) NP_001269121.1:n.-18+305_-18+306insTTC
NM_001282193.2:c.-17-5400_-17-5399insTTC (RNASE4) NP_001269122.1:n.-17-5400_-17-5399insTTC
NM_194431.3:c.-18+5081_-18+5082insTTC (RNASE4) NP_919412.1:n.-18+5081_-18+5082insTTC
NM_001385271.1:c.391_392insTTC (ANG) NP_001372200.1:p.Cys131delinsPheArg
NM_001385272.1:c.391_392insTTC (ANG) NP_001372201.1:p.Cys131delinsPheArg
NM_001385273.1:c.391_392insTTC (ANG) NP_001372202.1:p.Cys131delinsPheArg
NM_001385274.1:c.391_392insTTC (ANG) NP_001372203.1:p.Cys131delinsPheArg
NR_174964.1:n.467-207_467-206insGAA (EGILA)
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