Linked Data
dbSNP Id:
rs1344435938
gnomAD v3:
19-13261701-GATCATTCCCATTTTACAGGCA-G
gnomAD v4:
19-13261701-GATCATTCCCATTTTACAGGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13261703_13261723del , CM000681.2:g.13261703_13261723del | GRCh38 |
| NC_000019.9:g.13372517_13372537del , CM000681.1:g.13372517_13372537del | GRCh37 |
| NC_000019.8:g.13233517_13233537del | NCBI36 |
| NG_011569.1:g.249739_249759del , LRG_7:g.249739_249759del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.4090-112_4090-92del MANE Select | ENSP00000353362.5:n.4090-112_4090-92del | |
| ENST00000573710.7:c.4096-112_4096-92del | ENSP00000460092.3:n.4096-112_4096-92del | |
| ENST00000590205.2:n.984_1004del | ||
| ENST00000635727.1:c.4093-112_4093-92del | ENSP00000490001.1:n.4093-112_4093-92del | |
| ENST00000635742.1:n.79-112_79-92del | ||
| ENST00000635895.1:c.4093-112_4093-92del | ENSP00000490323.1:n.4093-112_4093-92del | |
| ENST00000635917.1:n.582-112_582-92del | ||
| ENST00000636012.1:c.4093-112_4093-92del | ENSP00000490223.1:n.4093-112_4093-92del | |
| ENST00000636389.1:c.4093-112_4093-92del | ENSP00000489992.1:n.4093-112_4093-92del | |
| ENST00000636549.1:c.4093-112_4093-92del | ENSP00000490578.1:n.4093-112_4093-92del | |
| ENST00000636816.1:n.778-112_778-92del | ||
| ENST00000637004.1:n.556-112_556-92del | ||
| ENST00000637276.1:c.4093-112_4093-92del | ENSP00000489777.1:n.4093-112_4093-92del | |
| ENST00000637432.1:c.4102-112_4102-92del | ENSP00000490617.1:n.4102-112_4102-92del | |
| ENST00000637692.1:n.412-112_412-92del | ||
| ENST00000637736.1:c.3952-112_3952-92del | ENSP00000489861.1:n.3952-112_3952-92del | |
| ENST00000637769.1:c.4093-112_4093-92del | ENSP00000489778.1:n.4093-112_4093-92del | |
| ENST00000637927.1:c.4096-112_4096-92del | ENSP00000489715.1:n.4096-112_4096-92del | |
| ENST00000638009.2:c.4093-112_4093-92del | ENSP00000489913.1:n.4093-112_4093-92del | |
| ENST00000638029.1:c.4102-112_4102-92del | ENSP00000489829.1:n.4102-112_4102-92del | |
| ENST00000664864.1:c.4288-112_4288-92del | ENSP00000499449.1:n.4288-112_4288-92del | |
| ENST00000360228.9:c.4090-112_4090-92del | ENSP00000353362.5:n.4090-112_4090-92del | |
| ENST00000573710.6:c.4093-112_4093-92del | ENSP00000460092.2:n.4093-112_4093-92del | |
| ENST00000585802.5:c.148-112_148-92del | ENSP00000465598.1:n.148-112_148-92del | |
| ENST00000590205.1:n.169-112_169-92del | ||
| ENST00000614285.4:c.4102-112_4102-92del | ENSP00000479983.1:n.4102-112_4102-92del | |
| NM_000068.3:c.4102-112_4102-92del | NP_000059.3:n.4102-112_4102-92del | |
| NM_001127221.1:c.4093-112_4093-92del , LRG_7t1:c.4093-112_4093-92del | NP_001120693.1:n.4093-112_4093-92del | |
| NM_001127222.1:c.4090-112_4090-92del | NP_001120694.1:n.4090-112_4090-92del | |
| NM_001174080.1:c.4093-112_4093-92del | NP_001167551.1:n.4093-112_4093-92del | |
| NM_023035.2:c.4102-112_4102-92del | NP_075461.2:n.4102-112_4102-92del | |
| NM_000068.4:c.4102-112_4102-92del | NP_000059.3:n.4102-112_4102-92del | |
| NM_001127222.2:c.4090-112_4090-92del MANE Select | NP_001120694.1:n.4090-112_4090-92del | |
| NM_001174080.2:c.4093-112_4093-92del | NP_001167551.1:n.4093-112_4093-92del | |
| NM_023035.3:c.4102-112_4102-92del | NP_075461.2:n.4102-112_4102-92del | |
| NM_001127221.2:c.4093-112_4093-92del | NP_001120693.1:n.4093-112_4093-92del |