Linked Data
dbSNP Id:
rs1757233751
gnomAD v3:
5-177264184-TGCCACTATG-T
gnomAD v4:
5-177264184-TGCCACTATG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177264185_177264193del , CM000667.2:g.177264185_177264193del | GRCh38 |
| NC_000005.9:g.176691186_176691194del , CM000667.1:g.176691186_176691194del | GRCh37 |
| NC_000005.8:g.176623792_176623800del | NCBI36 |
| NG_009821.1:g.136107_136115del , LRG_512:g.136107_136115del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508896.7:c.4274-3377_4274-3369del | ENSP00000423372.3:n.4274-3377_4274-3369de... | |
| ENST00000347982.9:c.4274-3377_4274-3369del | ENSP00000343209.5:n.4274-3377_4274-3369de... | |
| ENST00000354179.9:c.4274-3377_4274-3369del | ENSP00000346111.5:n.4274-3377_4274-3369de... | |
| ENST00000685206.1:n.4730-3377_4730-3369del | ||
| ENST00000686993.1:c.4274-3377_4274-3369del | ENSP00000510020.1:n.4274-3377_4274-3369de... | |
| ENST00000687453.1:c.4838-3377_4838-3369del | ENSP00000508426.1:n.4838-3377_4838-3369de... | |
| ENST00000688613.1:n.4544-3377_4544-3369del | ||
| ENST00000689345.1:c.4274-3377_4274-3369del | ENSP00000509711.1:n.4274-3377_4274-3369de... | |
| ENST00000689549.1:n.5294-3377_5294-3369del | ||
| ENST00000439151.7:c.5147-3377_5147-3369del MANE Select | ENSP00000395929.2:n.5147-3377_5147-3369de... | |
| ENST00000347982.8:c.4340-3377_4340-3369del | ENSP00000343209.4:n.4340-3377_4340-3369de... | |
| ENST00000354179.8:c.4340-3377_4340-3369del | ENSP00000346111.4:n.4340-3377_4340-3369de... | |
| ENST00000439151.6:c.5147-3377_5147-3369del | ENSP00000395929.2:n.5147-3377_5147-3369de... | |
| NM_022455.4:c.5147-3377_5147-3369del , LRG_512t1:c.5147-3377_5147-3369del | NP_071900.2:n.5147-3377_5147-3369del | |
| NM_172349.2:c.4340-3377_4340-3369del | NP_758859.1:n.4340-3377_4340-3369del | |
| XM_005265959.1:c.5147-3377_5147-3369del | XP_005266016.1:n.5147-3377_5147-3369del | |
| XM_005265960.1:c.4340-3377_4340-3369del | XP_005266017.1:n.4340-3377_4340-3369del | |
| XM_005265961.1:c.4340-3377_4340-3369del | XP_005266018.1:n.4340-3377_4340-3369del | |
| XM_005265962.3:c.641-3377_641-3369del | XP_005266019.1:n.641-3377_641-3369del | |
| XM_011534610.1:c.5147-3377_5147-3369del | XP_011532912.1:n.5147-3377_5147-3369del | |
| XM_011534611.1:c.5147-3377_5147-3369del | XP_011532913.1:n.5147-3377_5147-3369del | |
| XM_011534612.1:c.4727-3377_4727-3369del | XP_011532914.1:n.4727-3377_4727-3369del | |
| XM_011534613.1:c.4091-3377_4091-3369del | XP_011532915.1:n.4091-3377_4091-3369del | |
| XM_011534617.1:c.881-3377_881-3369del | XP_011532919.1:n.881-3377_881-3369del | |
| NM_001365684.1:c.4340-3377_4340-3369del | NP_001352613.1:n.4340-3377_4340-3369del | |
| XM_024446150.1:c.5147-3377_5147-3369del | XP_024301918.1:n.5147-3377_5147-3369del | |
| XM_024446151.1:c.5147-3377_5147-3369del | XP_024301919.1:n.5147-3377_5147-3369del | |
| XM_024446152.1:c.5147-3377_5147-3369del | XP_024301920.1:n.5147-3377_5147-3369del | |
| XM_024446153.1:c.5147-3377_5147-3369del | XP_024301921.1:n.5147-3377_5147-3369del | |
| XM_024446154.1:c.4727-3377_4727-3369del | XP_024301922.1:n.4727-3377_4727-3369del | |
| XM_024446155.1:c.4340-3377_4340-3369del | XP_024301923.1:n.4340-3377_4340-3369del | |
| XM_024446156.1:c.4340-3377_4340-3369del | XP_024301924.1:n.4340-3377_4340-3369del | |
| XM_024446158.1:c.4340-3377_4340-3369del | XP_024301926.1:n.4340-3377_4340-3369del | |
| XM_024446159.1:c.4091-3377_4091-3369del | XP_024301927.1:n.4091-3377_4091-3369del | |
| XM_024446162.1:c.881-3377_881-3369del | XP_024301930.1:n.881-3377_881-3369del | |
| XM_024446163.1:c.641-3377_641-3369del | XP_024301931.1:n.641-3377_641-3369del | |
| NM_022455.5:c.5147-3377_5147-3369del MANE Select | NP_071900.2:n.5147-3377_5147-3369del | |
| NM_172349.3:c.4340-3377_4340-3369del | NP_758859.1:n.4340-3377_4340-3369del |