Linked Data
dbSNP Id:
rs34487219
ExAC:
X:19380975 TA / T
gnomAD v2:
X-19380975-TA-T
gnomAD v3:
X-19362857-TA-T
gnomAD v4:
X-19362857-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19362874del , CM000685.2:g.19362874del | GRCh38 |
| NC_000023.10:g.19380992del , CM000685.1:g.19380992del | GRCh37 |
| NC_000023.9:g.19290913del | NCBI36 |
| NG_016781.1:g.23982del | |
| NG_021184.1:g.157404del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338883.9:c.3567-8del MANE Select | ENSP00000345629.4:n.3567-8del | |
| ENST00000338883.8:c.3567-8del | ENSP00000345629.4:n.3567-8del | |
| ENST00000359173.7:c.2895-8del | ||
| ENST00000470101.1:n.985-8del | ||
| ENST00000518578.5:n.3629-8del | ||
| NM_001001671.3:c.3567-8del | NP_001001671.3:n.3567-8del | |
| XM_011545507.1:c.3222-8del | XP_011543809.1:n.3222-8del | |
| XM_011545508.1:c.3135-8del | XP_011543810.1:n.3135-8del | |
| XM_011545509.1:c.2532-8del | XP_011543811.1:n.2532-8del | |
| XM_011545510.1:c.2241-8del | XP_011543812.1:n.2241-8del | |
| XM_011545511.1:c.1872-8del | XP_011543813.1:n.1872-8del | |
| XM_011545507.3:c.3222-8del | XP_011543809.3:n.3222-8del | |
| XM_011545508.3:c.3135-8del | XP_011543810.3:n.3135-8del | |
| XM_011545510.2:c.2241-8del | XP_011543812.1:n.2241-8del | |
| XM_011545511.2:c.1872-8del | XP_011543813.1:n.1872-8del | |
| NM_001001671.4:c.3567-8del MANE Select | NP_001001671.3:n.3567-8del |