Canonical Allele Identifier: CA2122139967

Gene: ANG RNASE4 EGILA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20693946_20693947delinsGT , CM000676.2:g.20693946_20693947delinsGT	GRCh38
NC_000014.8:g.21162105_21162106delinsGT , CM000676.1:g.21162105_21162106delinsGT	GRCh37
NC_000014.7:g.20231945_20231946delinsGT	NCBI36
NG_008717.2:g.14770_14771delinsGT , LRG_653:g.14770_14771delinsGT
NG_033053.1:g.14734_14735delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397990.5:c.382_383delinsGT (ANG) MANE Select	ENSP00000381077.4:p.Val128=
ENST00000555835.3:c.-17-5409_-17-5408delinsGT (RNASE4) MANE Select	ENSP00000452245.1:n.-17-5409_-17-5408delinsGT
ENST00000336811.10:c.382_383delinsGT (ANG)	ENSP00000336762.6:p.Val128=
ENST00000397990.4:c.382_383delinsGT (ANG)	ENSP00000381077.4:p.Val128=
ENST00000397995.2:c.-17-5409_-17-5408delinsGT (RNASE4)	ENSP00000381081.2:n.-17-5409_-17-5408delinsGT
ENST00000553909.1:c.86+296_86+297delinsGT	ENSP00000477037.1:n.86+296_86+297delinsGT
ENST00000554073.1:n.146-4920_146-4919delinsGT (ANG)
ENST00000555597.1:c.-18+5072_-18+5073delinsGT (RNASE4)	ENSP00000451624.1:n.-18+5072_-18+5073delinsGT
ENST00000555835.2:c.-17-5409_-17-5408delinsGT (RNASE4)	ENSP00000452245.1:n.-17-5409_-17-5408delinsGT
NM_001097577.2:c.382_383delinsGT (ANG)	NP_001091046.1:p.Val128=
NM_001145.4:c.382_383delinsGT , LRG_653t1:c.382_383delinsGT (ANG)	NP_001136.1:p.Val128=
NM_001282192.1:c.-18+296_-18+297delinsGT (RNASE4)	NP_001269121.1:n.-18+296_-18+297delinsGT
NM_001282193.1:c.-17-5409_-17-5408delinsGT (RNASE4)	NP_001269122.1:n.-17-5409_-17-5408delinsGT
NM_002937.4:c.-17-5409_-17-5408delinsGT (RNASE4)	NP_002928.1:n.-17-5409_-17-5408delinsGT
NM_194431.2:c.-18+5072_-18+5073delinsGT (RNASE4)	NP_919412.1:n.-18+5072_-18+5073delinsGT
NM_002937.5:c.-17-5409_-17-5408delinsGT (RNASE4) MANE Select	NP_002928.1:n.-17-5409_-17-5408delinsGT
NM_001097577.3:c.382_383delinsGT (ANG) MANE Select	NP_001091046.1:p.Val128=
NM_001282192.2:c.-18+296_-18+297delinsGT (RNASE4)	NP_001269121.1:n.-18+296_-18+297delinsGT
NM_001282193.2:c.-17-5409_-17-5408delinsGT (RNASE4)	NP_001269122.1:n.-17-5409_-17-5408delinsGT
NM_194431.3:c.-18+5072_-18+5073delinsGT (RNASE4)	NP_919412.1:n.-18+5072_-18+5073delinsGT
NM_001385271.1:c.382_383delinsGT (ANG)	NP_001372200.1:p.Val128=
NM_001385272.1:c.382_383delinsGT (ANG)	NP_001372201.1:p.Val128=
NM_001385273.1:c.382_383delinsGT (ANG)	NP_001372202.1:p.Val128=
NM_001385274.1:c.382_383delinsGT (ANG)	NP_001372203.1:p.Val128=
NR_174964.1:n.467-198_467-197delinsAC (EGILA)