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) |