Linked Data
gnomAD v4:
5-174724747-GGCGCCGAGGGGGCCGCGGAGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174724754_174724775del , CM000667.2:g.174724754_174724775del | GRCh38 |
| NC_000005.9:g.174151757_174151778del , CM000667.1:g.174151757_174151778del | GRCh37 |
| NC_000005.8:g.174084363_174084384del | NCBI36 |
| NG_008124.1:g.5183_5204del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.95_116del MANE Select | ENSP00000239243.5:p.Glu32AlafsTer? | |
| ENST00000239243.6:c.95_116del | ENSP00000239243.5:p.Glu32AlafsTer? | |
| ENST00000507785.2:c.95_116del | ENSP00000427425.1:p.Glu32AlafsTer? | |
| NM_002449.4:c.95_116del | NP_002440.2:p.Glu32AlafsTer? | |
| NM_001363626.1:c.95_116del | NP_001350555.1:p.Glu32AlafsTer? | |
| NM_002449.5:c.95_116del MANE Select | NP_002440.2:p.Glu32AlafsTer? | |
| NM_001363626.2:c.95_116del | NP_001350555.1:p.Glu32AlafsTer? |