Linked Data
dbSNP Id:
rs761824145
ExAC:
12:110033024 GCTC / G
gnomAD v2:
12-110033024-GCTC-G
gnomAD v4:
12-109595219-GCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109595222_109595224del , CM000674.2:g.109595222_109595224del | GRCh38 |
| NC_000012.11:g.110033027_110033029del , CM000674.1:g.110033027_110033029del | GRCh37 |
| NC_000012.10:g.108517410_108517412del | NCBI36 |
| NG_007702.1:g.26528_26530del , LRG_156:g.26528_26530del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.196+41_196+43del | ENSP00000439134.1:n.196+41_196+43del | |
| ENST00000546277.6:c.1039+41_1039+43del | ENSP00000438153.2:n.1039+41_1039+43del | |
| ENST00000636529.2:n.678+41_678+43del | ||
| ENST00000697195.1:c.*803+41_*803+43del | ENSP00000513181.1:n.*803+41_*803+43del | |
| ENST00000697196.1:c.*212+41_*212+43del | ENSP00000513182.1:n.*212+41_*212+43del | |
| ENST00000697197.1:n.3068+41_3068+43del | ||
| ENST00000697198.1:n.1423+41_1423+43del | ||
| ENST00000228510.8:c.1039+41_1039+43del MANE Select | ENSP00000228510.3:n.1039+41_1039+43del | |
| ENST00000636529.1:c.664+41_664+43del | ||
| ENST00000636996.1:c.887+41_887+43del | ||
| ENST00000228510.7:c.1039+41_1039+43del | ENSP00000228510.3:n.1039+41_1039+43del | |
| ENST00000392727.7:c.883+41_883+43del | ENSP00000376487.3:n.883+41_883+43del | |
| ENST00000447878.6:c.*486+41_*486+43del | ENSP00000415555.2:n.*486+41_*486+43del | |
| ENST00000537237.5:c.*712+41_*712+43del | ENSP00000445382.1:n.*712+41_*712+43del | |
| ENST00000539575.4:c.1039+41_1039+43del | ENSP00000443551.2:n.1039+41_1039+43del | |
| ENST00000539696.5:c.196+41_196+43del | ENSP00000439134.1:n.196+41_196+43del | |
| ENST00000540353.1:n.3272+41_3272+43del | ||
| ENST00000625889.2:c.883+41_883+43del | ENSP00000486846.1:n.883+41_883+43del | |
| ENST00000629016.2:c.*486+41_*486+43del | ENSP00000486804.1:n.*486+41_*486+43del | |
| NM_000431.3:c.1039+41_1039+43del | NP_000422.1:n.1039+41_1039+43del | |
| NM_001114185.2:c.1039+41_1039+43del | NP_001107657.1:n.1039+41_1039+43del | |
| NM_001301182.1:c.883+41_883+43del | NP_001288111.1:n.883+41_883+43del | |
| XM_011538372.1:c.1039+41_1039+43del | XP_011536674.1:n.1039+41_1039+43del | |
| XM_017019313.2:c.883+41_883+43del | XP_016874802.1:n.883+41_883+43del | |
| XM_017019314.1:c.1039+41_1039+43del | XP_016874803.1:n.1039+41_1039+43del | |
| NM_000431.4:c.1039+41_1039+43del MANE Select | NP_000422.1:n.1039+41_1039+43del | |
| NM_001114185.3:c.1039+41_1039+43del | NP_001107657.1:n.1039+41_1039+43del | |
| NM_001301182.2:c.883+41_883+43del | NP_001288111.1:n.883+41_883+43del |