Linked Data
dbSNP Id:
rs1344621326
gnomAD v2:
2-71609023-TCA-T
gnomAD v3:
2-71381893-TCA-T
gnomAD v4:
2-71381893-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71381895_71381896del , CM000664.2:g.71381895_71381896del | GRCh38 |
| NC_000002.11:g.71609025_71609026del , CM000664.1:g.71609025_71609026del | GRCh37 |
| NC_000002.10:g.71462533_71462534del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264447.9:c.2377+1330_2377+1331del MANE Select | ENSP00000264447.4:n.2377+1330_2377+1331de... | |
| ENST00000264447.8:c.2377+1330_2377+1331del | ENSP00000264447.4:n.2377+1330_2377+1331de... | |
| ENST00000409544.5:c.2377+1330_2377+1331del | ENSP00000386433.1:n.2377+1330_2377+1331de... | |
| ENST00000410075.5:c.2377+1330_2377+1331del | ENSP00000485608.1:n.2377+1330_2377+1331de... | |
| ENST00000491843.2:n.224+992_224+993del | ||
| NM_001014972.2:c.2377+1330_2377+1331del | NP_001014972.1:n.2377+1330_2377+1331del | |
| NM_001252612.1:c.2377+1330_2377+1331del | NP_001239541.1:n.2377+1330_2377+1331del | |
| NM_001252613.1:c.2377+1330_2377+1331del | NP_001239542.1:n.2377+1330_2377+1331del | |
| NM_014497.4:c.2377+1330_2377+1331del | NP_055312.2:n.2377+1330_2377+1331del | |
| XM_005264263.1:c.844+1330_844+1331del | XP_005264320.1:n.844+1330_844+1331del | |
| XM_006711989.1:c.844+1330_844+1331del | XP_006712052.1:n.844+1330_844+1331del | |
| XM_011532767.1:c.2377+1330_2377+1331del | XP_011531069.1:n.2377+1330_2377+1331del | |
| XM_011532768.1:c.2377+1330_2377+1331del | XP_011531070.1:n.2377+1330_2377+1331del | |
| XM_011532769.1:c.2377+1330_2377+1331del | XP_011531071.1:n.2377+1330_2377+1331del | |
| XR_939678.1:n.2492+1330_2492+1331del | ||
| XM_011532768.3:c.2695+1330_2695+1331del | XP_011531070.2:n.2695+1330_2695+1331del | |
| XM_017003809.2:c.2695+1330_2695+1331del | XP_016859298.1:n.2695+1330_2695+1331del | |
| XM_017003810.2:c.2377+1330_2377+1331del | XP_016859299.1:n.2377+1330_2377+1331del | |
| XM_017003812.2:c.2695+1330_2695+1331del | XP_016859301.1:n.2695+1330_2695+1331del | |
| XR_001738706.2:n.2741+1330_2741+1331del | ||
| XR_001738707.2:n.2679+1330_2679+1331del | ||
| XR_002959264.1:n.2741+1330_2741+1331del | ||
| XR_002959265.1:n.2741+1330_2741+1331del | ||
| XR_002959266.1:n.2741+1330_2741+1331del | ||
| XR_939678.3:n.2741+1330_2741+1331del | ||
| NM_014497.5:c.2377+1330_2377+1331del MANE Select | NP_055312.2:n.2377+1330_2377+1331del | |
| NM_001014972.3:c.2377+1330_2377+1331del | NP_001014972.1:n.2377+1330_2377+1331del | |
| NM_001252612.2:c.2377+1330_2377+1331del | NP_001239541.1:n.2377+1330_2377+1331del | |
| NM_001252613.2:c.2377+1330_2377+1331del | NP_001239542.1:n.2377+1330_2377+1331del |