Linked Data
dbSNP Id:
rs775912796
ExAC:
19:18186615 AGCT / A
gnomAD v2:
19-18186615-AGCT-A
gnomAD v4:
19-18075805-AGCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18075808_18075810del , CM000681.2:g.18075808_18075810del | GRCh38 |
| NC_000019.9:g.18186618_18186620del , CM000681.1:g.18186618_18186620del | GRCh37 |
| NC_000019.8:g.18047618_18047620del | NCBI36 |
| NG_007366.2:g.28142_28144del , LRG_72:g.28142_28144del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593993.7:c.641_643del MANE Select | ENSP00000472165.2:p.Gln214del | |
| ENST00000322153.11:c.641_643del | ENSP00000314425.5:p.Gln214del | |
| ENST00000593993.6:c.641_643del | ENSP00000472165.2:p.Gln214del | |
| ENST00000600835.6:c.641_643del | ENSP00000470788.1:p.Gln214del | |
| NM_001290023.1:c.641_643del | NP_001276952.1:p.Gln214del | |
| NM_001290024.1:c.761_763del | NP_001276953.1:p.Gln254del | |
| NM_005535.2:c.641_643del | NP_005526.1:p.Gln214del | |
| NM_153701.2:c.641_643del | NP_714912.1:p.Gln214del | |
| XM_006722741.2:c.761_763del | XP_006722804.2:p.Gln254del | |
| XM_011527966.1:c.773_775del | XP_011526268.1:p.Gln258del | |
| XM_011527967.1:c.761_763del | XP_011526269.1:p.Gln254del | |
| XM_011527968.1:c.773_775del | XP_011526270.1:p.Gln258del | |
| XM_011527969.1:c.761_763del | XP_011526271.1:p.Gln254del | |
| XM_011527970.1:c.773_775del | XP_011526272.1:p.Gln258del | |
| XM_011527971.1:c.773_775del | XP_011526273.1:p.Gln258del | |
| XM_011527972.1:c.773_775del | XP_011526274.1:p.Gln258del | |
| XM_011527973.1:c.653_655del | XP_011526275.1:p.Gln218del | |
| XM_011527974.1:c.641_643del | XP_011526276.1:p.Gln214del | |
| XM_011527975.1:c.761_763del | XP_011526277.1:p.Gln254del | |
| XM_011527976.1:c.773_775del | XP_011526278.1:p.Gln258del | |
| XM_011527977.1:c.761_763del | XP_011526279.1:p.Gln254del | |
| XM_006722741.3:c.761_763del | XP_006722804.2:p.Gln254del | |
| XM_011527966.2:c.773_775del | XP_011526268.1:p.Gln258del | |
| XM_011527967.2:c.761_763del | XP_011526269.1:p.Gln254del | |
| XM_011527968.3:c.773_775del | XP_011526270.1:p.Gln258del | |
| XM_011527969.2:c.761_763del | XP_011526271.1:p.Gln254del | |
| XM_011527970.2:c.773_775del | XP_011526272.1:p.Gln258del | |
| XM_011527971.3:c.773_775del | XP_011526273.1:p.Gln258del | |
| XM_011527972.3:c.773_775del | XP_011526274.1:p.Gln258del | |
| XM_011527973.2:c.653_655del | XP_011526275.1:p.Gln218del | |
| XM_011527974.2:c.641_643del | XP_011526276.1:p.Gln214del | |
| XM_011527975.2:c.761_763del | XP_011526277.1:p.Gln254del | |
| XM_011527976.2:c.773_775del | XP_011526278.1:p.Gln258del | |
| XM_011527977.2:c.761_763del | XP_011526279.1:p.Gln254del | |
| XM_017026762.1:c.38_40del | XP_016882251.1:p.Gln13del | |
| NM_001290023.2:c.641_643del | NP_001276952.1:p.Gln214del | |
| NM_005535.3:c.641_643del MANE Select | NP_005526.1:p.Gln214del | |
| NM_153701.3:c.641_643del | NP_714912.1:p.Gln214del |