Linked Data
gnomAD v4:
7-21864547-AAGAAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21864551_21864556del , CM000669.2:g.21864551_21864556del | GRCh38 |
| NC_000007.13:g.21904169_21904174del , CM000669.1:g.21904169_21904174del | GRCh37 |
| NC_000007.12:g.21870694_21870699del | NCBI36 |
| NG_012886.2:g.326337_326342del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.11390_11395del MANE Select | ENSP00000475939.1:p.Lys3797_Glu3798del | |
| ENST00000328843.10:c.11411_11416del | ENSP00000330671.7:p.Lys3804_Glu3805del | |
| ENST00000409508.7:c.11390_11395del | ENSP00000475939.1:p.Lys3797_Glu3798del | |
| ENST00000620169.4:c.11411_11416del | ENSP00000481693.1:p.Lys3804_Glu3805del | |
| NM_001277115.1:c.11390_11395del | NP_001264044.1:p.Lys3797_Glu3798del | |
| NM_001277115.2:c.11390_11395del MANE Select | NP_001264044.1:p.Lys3797_Glu3798del |