Linked Data
dbSNP Id:
rs1301255649
gnomAD v2:
6-31784650-G-GATCT
gnomAD v4:
6-31816873-G-GATCT
MyVariant Identifiers:
chr6:g.31784650_31784651insATCT (hg19)
chr6:g.31816873_31816874insATCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31816873_31816874insATCT , CM000668.2:g.31816873_31816874insATCT | GRCh38 |
| NC_000006.11:g.31784650_31784651insATCT , CM000668.1:g.31784650_31784651insATCT | GRCh37 |
| NC_000006.10:g.31892629_31892630insATCT | NCBI36 |
| NG_011855.1:g.3185_3186insAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375651.7:c.1117_1118insATCT (HSPA1A) MANE Select | ENSP00000364802.5:p.Ala373AspfsTer? | |
| ENST00000375651.6:c.1117_1118insATCT (HSPA1A) | ENSP00000364802.5:p.Ala373AspfsTer? | |
| ENST00000608703.1:c.622_623insATCT (HSPA1A) | ENSP00000477378.1:p.Ala208AspfsTer? | |
| NM_005345.5:c.1117_1118insATCT (HSPA1A) | NP_005336.3:p.Ala373AspfsTer? | |
| XM_005249073.2:c.-14+4139_-14+4140insAGAT (HSPA1L) | XP_005249130.1:n.-14+4139_-14+4140insAGAT | |
| XM_011514566.1:c.-14+4139_-14+4140insAGAT (HSPA1L) | XP_011512868.1:n.-14+4139_-14+4140insAGAT | |
| NM_005345.6:c.1117_1118insATCT (HSPA1A) MANE Select | NP_005336.3:p.Ala373AspfsTer? |