Linked Data
dbSNP Id:
rs1193277822
gnomAD v2:
12-103238255-TTTATGTGTCACCTTGAC-T
gnomAD v3:
12-102844477-TTTATGTGTCACCTTGAC-T
gnomAD v4:
12-102844477-TTTATGTGTCACCTTGAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844479_102844495del , CM000674.2:g.102844479_102844495del | GRCh38 |
| NC_000012.11:g.103238257_103238273del , CM000674.1:g.103238257_103238273del | GRCh37 |
| NC_000012.10:g.101762387_101762403del | NCBI36 |
| NG_008690.1:g.78109_78125del | |
| NG_008690.2:g.118917_118933del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.970-63_970-47del MANE Select | ENSP00000448059.1:n.970-63_970-47del | |
| ENST00000307000.7:c.955-63_955-47del | ENSP00000303500.2:n.955-63_955-47del | |
| ENST00000549247.6:n.729-63_729-47del | ||
| ENST00000551114.2:n.632-63_632-47del | ||
| ENST00000553106.5:c.970-63_970-47del | ENSP00000448059.1:n.970-63_970-47del | |
| ENST00000635477.1:c.74-63_74-47del | ||
| ENST00000635528.1:n.485-63_485-47del | ||
| NM_000277.1:c.970-63_970-47del | NP_000268.1:n.970-63_970-47del | |
| XM_011538422.1:c.913-63_913-47del | XP_011536724.1:n.913-63_913-47del | |
| NM_000277.2:c.970-63_970-47del | NP_000268.1:n.970-63_970-47del | |
| NM_001354304.1:c.970-63_970-47del | NP_001341233.1:n.970-63_970-47del | |
| NM_000277.3:c.970-63_970-47del MANE Select | NP_000268.1:n.970-63_970-47del | |
| NM_001354304.2:c.970-63_970-47del | NP_001341233.1:n.970-63_970-47del |