Linked Data
dbSNP Id:
rs767829538
ExAC:
10:127477596 CAG / C
gnomAD v2:
10-127477596-CAG-C
gnomAD v3:
10-125789027-CAG-C
gnomAD v4:
10-125789027-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125789028_125789029del , CM000672.2:g.125789028_125789029del | GRCh38 |
| NC_000010.10:g.127477597_127477598del , CM000672.1:g.127477597_127477598del | GRCh37 |
| NC_000010.9:g.127467587_127467588del | NCBI36 |
| NG_011557.1:g.39240_39241del | |
| NG_011557.2:g.39240_39241del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.661-24_661-23del | ENSP00000518871.1:n.661-24_661-23del | |
| ENST00000368797.10:c.661-24_661-23del MANE Select | ENSP00000357787.4:n.661-24_661-23del | |
| ENST00000465577.6:c.681-24_681-23del | ||
| ENST00000648427.1:c.*659-24_*659-23del | ENSP00000497909.1:n.*659-24_*659-23del | |
| ENST00000649536.1:c.661-24_661-23del | ENSP00000497817.1:n.661-24_661-23del | |
| ENST00000650185.1:c.811-24_811-23del | ||
| ENST00000650472.1:n.3047-24_3047-23del | ||
| ENST00000650524.1:c.574-24_574-23del | ENSP00000498108.1:n.574-24_574-23del | |
| ENST00000650587.1:c.742-24_742-23del | ENSP00000497366.1:n.742-24_742-23del | |
| ENST00000368786.5:c.661-24_661-23del | ENSP00000357775.1:n.661-24_661-23del | |
| ENST00000368797.8:c.661-24_661-23del | ENSP00000357787.4:n.661-24_661-23del | |
| ENST00000464267.1:n.758-24_758-23del | ||
| ENST00000465577.5:n.303-24_303-23del | ||
| ENST00000470483.1:n.349-24_349-23del | ||
| ENST00000484541.5:n.434-24_434-23del | ||
| ENST00000616800.4:c.161-3769_161-3768del | ||
| ENST00000622016.4:c.241-3190_241-3189del | ENSP00000483041.1:n.241-3190_241-3189del | |
| NM_000375.2:c.661-24_661-23del | NP_000366.1:n.661-24_661-23del | |
| XM_005270137.2:c.742-24_742-23del | XP_005270194.1:n.742-24_742-23del | |
| XM_005270138.2:c.661-24_661-23del | XP_005270195.1:n.661-24_661-23del | |
| XM_005270139.2:c.661-3190_661-3189del | XP_005270196.1:n.661-3190_661-3189del | |
| XM_006717960.2:c.742-24_742-23del | XP_006718023.1:n.742-24_742-23del | |
| XM_011540127.1:c.661-3769_661-3768del | XP_011538429.1:n.661-3769_661-3768del | |
| XR_246103.2:n.841-24_841-23del | ||
| XR_945810.1:n.1071-24_1071-23del | ||
| NM_000375.3:c.661-24_661-23del MANE Select | NP_000366.1:n.661-24_661-23del | |
| NM_001324036.1:c.742-24_742-23del | NP_001310965.1:n.742-24_742-23del | |
| NM_001324037.1:c.661-24_661-23del | NP_001310966.1:n.661-24_661-23del | |
| NM_001324038.1:c.580-24_580-23del | NP_001310967.1:n.580-24_580-23del | |
| NR_136675.1:n.746-24_746-23del | ||
| NR_136676.1:n.1173-24_1173-23del | ||
| NR_136677.1:n.927-3190_927-3189del | ||
| NR_136678.1:n.657-24_657-23del | ||
| XM_011540127.2:c.661-3769_661-3768del | XP_011538429.1:n.661-3769_661-3768del | |
| XM_017016611.2:c.742-24_742-23del | XP_016872100.2:n.742-24_742-23del | |
| XM_017016612.2:c.661-3190_661-3189del | XP_016872101.1:n.661-3190_661-3189del | |
| XM_024448154.1:c.661-24_661-23del | XP_024303922.1:n.661-24_661-23del | |
| XR_002957010.1:n.2000-24_2000-23del | ||
| XR_246103.3:n.856-24_856-23del | ||
| XR_945810.2:n.1086-24_1086-23del | ||
| NM_001324036.2:c.742-24_742-23del | NP_001310965.1:n.742-24_742-23del | |
| NM_001324037.2:c.661-24_661-23del | NP_001310966.1:n.661-24_661-23del | |
| NM_001324038.2:c.580-24_580-23del | NP_001310967.1:n.580-24_580-23del | |
| NR_136675.2:n.736-24_736-23del | ||
| NR_136676.2:n.1163-24_1163-23del | ||
| NR_136678.2:n.647-24_647-23del | ||
| NR_136677.2:n.917-3190_917-3189del |