Linked Data
dbSNP Id:
rs1307058501
gnomAD v2:
5-127671393-CATT-C
gnomAD v3:
5-128335701-CATT-C
gnomAD v4:
5-128335701-CATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335704_128335706del , CM000667.2:g.128335704_128335706del | GRCh38 |
| NC_000005.9:g.127671396_127671398del , CM000667.1:g.127671396_127671398del | GRCh37 |
| NC_000005.8:g.127699295_127699297del | NCBI36 |
| NG_008750.1:g.207340_207342del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.509-127_509-125del | ||
| ENST00000703785.1:n.590-127_590-125del | ||
| ENST00000262464.9:c.3725-127_3725-125del MANE Select | ENSP00000262464.4:n.3725-127_3725-125del | |
| ENST00000262464.8:c.3725-127_3725-125del | ENSP00000262464.4:n.3725-127_3725-125del | |
| ENST00000507835.5:c.275-127_275-125del | ENSP00000426839.1:n.275-127_275-125del | |
| ENST00000508053.5:c.3725-127_3725-125del | ENSP00000424571.1:n.3725-127_3725-125del | |
| ENST00000508989.5:c.3626-127_3626-125del | ENSP00000425596.1:n.3626-127_3626-125del | |
| ENST00000619499.4:c.3722-127_3722-125del | ENSP00000482132.1:n.3722-127_3722-125del | |
| NM_001999.3:c.3725-127_3725-125del | NP_001990.2:n.3725-127_3725-125del | |
| XM_017009228.2:c.3572-127_3572-125del | XP_016864717.1:n.3572-127_3572-125del | |
| NM_001999.4:c.3725-127_3725-125del MANE Select | NP_001990.2:n.3725-127_3725-125del |