Linked Data
dbSNP Id:
rs1306842572
gnomAD v2:
3-38442519-A-AAGCC
gnomAD v4:
3-38401028-A-AAGCC
MyVariant Identifiers:
chr3:g.38442519_38442520insAGCC (hg19)
chr3:g.38401028_38401029insAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38401029_38401032dup , CM000665.2:g.38401029_38401032dup | GRCh38 |
| NC_000003.11:g.38442520_38442523dup , CM000665.1:g.38442520_38442523dup | GRCh37 |
| NC_000003.10:g.38417524_38417527dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000207870.8:c.1533+44_1533+47dup MANE Select | ENSP00000207870.3:n.1533+44_1533+47dup | |
| ENST00000649234.1:c.*768+44_*768+47dup | ENSP00000497023.1:n.*768+44_*768+47dup | |
| ENST00000650590.1:c.1452+44_1452+47dup | ENSP00000496840.1:n.1452+44_1452+47dup | |
| ENST00000207870.7:c.1533+44_1533+47dup | ENSP00000207870.3:n.1533+44_1533+47dup | |
| ENST00000424034.5:c.*1196+44_*1196+47dup | ENSP00000398845.1:n.*1196+44_*1196+47dup | |
| ENST00000472721.1:n.410+44_410+47dup | ||
| NM_005108.3:c.1533+44_1533+47dup | NP_005099.2:n.1533+44_1533+47dup | |
| XM_011534325.1:c.1533+44_1533+47dup | XP_011532627.1:n.1533+44_1533+47dup | |
| XM_011534326.1:c.1452+44_1452+47dup | XP_011532628.1:n.1452+44_1452+47dup | |
| XM_011534327.1:c.1533+44_1533+47dup | XP_011532629.1:n.1533+44_1533+47dup | |
| XM_011534328.1:c.1533+44_1533+47dup | XP_011532630.1:n.1533+44_1533+47dup | |
| XM_011534329.1:c.1533+44_1533+47dup | XP_011532631.1:n.1533+44_1533+47dup | |
| XM_011534330.1:c.1533+44_1533+47dup | XP_011532632.1:n.1533+44_1533+47dup | |
| NM_001349178.1:c.1533+44_1533+47dup | NP_001336107.1:n.1533+44_1533+47dup | |
| NM_001349179.1:c.1122+44_1122+47dup | NP_001336108.1:n.1122+44_1122+47dup | |
| NR_146068.1:n.1450+44_1450+47dup | ||
| XM_011534325.3:c.1533+44_1533+47dup | XP_011532627.1:n.1533+44_1533+47dup | |
| XM_011534327.2:c.1533+44_1533+47dup | XP_011532629.1:n.1533+44_1533+47dup | |
| XM_011534328.3:c.1533+44_1533+47dup | XP_011532630.1:n.1533+44_1533+47dup | |
| XM_011534329.2:c.1533+44_1533+47dup | XP_011532631.1:n.1533+44_1533+47dup | |
| XM_011534330.3:c.1533+44_1533+47dup | XP_011532632.1:n.1533+44_1533+47dup | |
| XM_017007595.1:c.1122+44_1122+47dup | XP_016863084.1:n.1122+44_1122+47dup | |
| XM_017007596.1:c.1335+44_1335+47dup | XP_016863085.1:n.1335+44_1335+47dup | |
| XM_017007597.1:c.852+44_852+47dup | XP_016863086.1:n.852+44_852+47dup | |
| XM_024453850.1:c.1335+44_1335+47dup | XP_024309618.1:n.1335+44_1335+47dup | |
| NM_001349178.2:c.1533+44_1533+47dup | NP_001336107.1:n.1533+44_1533+47dup | |
| NM_005108.4:c.1533+44_1533+47dup MANE Select | NP_005099.2:n.1533+44_1533+47dup | |
| NR_146068.2:n.1425+44_1425+47dup | ||
| NM_001349179.2:c.1122+44_1122+47dup | NP_001336108.1:n.1122+44_1122+47dup |