Linked Data
dbSNP Id:
rs1363429909
gnomAD v2:
19-41518636-AAACCAGACGCCTTC-A
gnomAD v4:
19-41012731-AAACCAGACGCCTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012734_41012747del , CM000681.2:g.41012734_41012747del | GRCh38 |
| NC_000019.9:g.41518639_41518652del , CM000681.1:g.41518639_41518652del | GRCh37 |
| NC_000019.8:g.46210479_46210492del | NCBI36 |
| NG_007929.1:g.26436_26449del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1213_1226del MANE Select | ENSP00000324648.2:p.Pro405SerfsTer2 | |
| ENST00000598834.2:c.1177-239_1177-226del | ||
| ENST00000324071.8:c.1213_1226del | ENSP00000324648.2:p.Pro405SerfsTer2 | |
| ENST00000593831.1:c.505_518del | ENSP00000470582.1:p.Pro169SerfsTer2 | |
| ENST00000597612.1:n.647+249_647+262del | ||
| NM_000767.4:c.1213_1226del | NP_000758.1:p.Pro405SerfsTer2 | |
| XM_005258569.3:c.1152+249_1152+262del | XP_005258626.1:n.1152+249_1152+262del | |
| XM_006723050.2:c.1213_1226del | XP_006723113.1:p.Pro405SerfsTer2 | |
| XM_011526546.1:c.1153-82_1153-69del | XP_011524848.1:n.1153-82_1153-69del | |
| XM_011526547.1:c.1153-239_1153-226del | XP_011524849.1:n.1153-239_1153-226del | |
| XM_011526548.1:c.733_746del | XP_011524850.1:p.Pro245SerfsTer2 | |
| XM_011526549.1:c.622_635del | XP_011524851.1:p.Pro208SerfsTer2 | |
| XM_011526550.1:c.613_626del | XP_011524852.1:p.Pro205SerfsTer2 | |
| NM_000767.5:c.1213_1226del MANE Select | NP_000758.1:p.Pro405SerfsTer2 |