Canonical Allele Identifier: CA612862631

Gene: ANG RNASE4 EGILA

Linked Data

• dbSNP Id: rs1264159002
• gnomAD v2: 14-21162109-T-TTGC
• gnomAD v4: 14-20693950-T-TTGC
• MyVariant Identifiers: chr14:g.21162109_21162110insTGC (hg19) ; chr14:g.20693950_20693951insTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20693952_20693954dup , CM000676.2:g.20693952_20693954dup	GRCh38
NC_000014.8:g.21162111_21162113dup , CM000676.1:g.21162111_21162113dup	GRCh37
NC_000014.7:g.20231951_20231953dup	NCBI36
NG_008717.2:g.14776_14778dup , LRG_653:g.14776_14778dup
NG_033053.1:g.14740_14742dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397990.5:c.388_390dup (ANG) MANE Select	ENSP00000381077.4:p.Ala130_Cys131insAla
ENST00000555835.3:c.-17-5403_-17-5401dup (RNASE4) MANE Select	ENSP00000452245.1:n.-17-5403_-17-5401dup
ENST00000336811.10:c.388_390dup (ANG)	ENSP00000336762.6:p.Ala130_Cys131insAla
ENST00000397990.4:c.388_390dup (ANG)	ENSP00000381077.4:p.Ala130_Cys131insAla
ENST00000397995.2:c.-17-5403_-17-5401dup (RNASE4)	ENSP00000381081.2:n.-17-5403_-17-5401dup
ENST00000553909.1:c.86+302_86+304dup	ENSP00000477037.1:n.86+302_86+304dup
ENST00000554073.1:n.146-4914_146-4912dup (ANG)
ENST00000555597.1:c.-18+5078_-18+5080dup (RNASE4)	ENSP00000451624.1:n.-18+5078_-18+5080dup
ENST00000555835.2:c.-17-5403_-17-5401dup (RNASE4)	ENSP00000452245.1:n.-17-5403_-17-5401dup
NM_001097577.2:c.388_390dup (ANG)	NP_001091046.1:p.Ala130_Cys131insAla
NM_001145.4:c.388_390dup , LRG_653t1:c.388_390dup (ANG)	NP_001136.1:p.Ala130_Cys131insAla
NM_001282192.1:c.-18+302_-18+304dup (RNASE4)	NP_001269121.1:n.-18+302_-18+304dup
NM_001282193.1:c.-17-5403_-17-5401dup (RNASE4)	NP_001269122.1:n.-17-5403_-17-5401dup
NM_002937.4:c.-17-5403_-17-5401dup (RNASE4)	NP_002928.1:n.-17-5403_-17-5401dup
NM_194431.2:c.-18+5078_-18+5080dup (RNASE4)	NP_919412.1:n.-18+5078_-18+5080dup
NM_002937.5:c.-17-5403_-17-5401dup (RNASE4) MANE Select	NP_002928.1:n.-17-5403_-17-5401dup
NM_001097577.3:c.388_390dup (ANG) MANE Select	NP_001091046.1:p.Ala130_Cys131insAla
NM_001282192.2:c.-18+302_-18+304dup (RNASE4)	NP_001269121.1:n.-18+302_-18+304dup
NM_001282193.2:c.-17-5403_-17-5401dup (RNASE4)	NP_001269122.1:n.-17-5403_-17-5401dup
NM_194431.3:c.-18+5078_-18+5080dup (RNASE4)	NP_919412.1:n.-18+5078_-18+5080dup
NM_001385271.1:c.388_390dup (ANG)	NP_001372200.1:p.Ala130_Cys131insAla
NM_001385272.1:c.388_390dup (ANG)	NP_001372201.1:p.Ala130_Cys131insAla
NM_001385273.1:c.388_390dup (ANG)	NP_001372202.1:p.Ala130_Cys131insAla
NM_001385274.1:c.388_390dup (ANG)	NP_001372203.1:p.Ala130_Cys131insAla
NR_174964.1:n.467-204_467-202dup (EGILA)