Linked Data
dbSNP Id:
rs1172237498
gnomAD v2:
7-87053351-T-TTCA
gnomAD v3:
7-87424035-T-TTCA
gnomAD v4:
7-87424035-T-TTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87424035_87424036insTCA , CM000669.2:g.87424035_87424036insTCA | GRCh38 |
| NC_000007.13:g.87053351_87053352insTCA , CM000669.1:g.87053351_87053352insTCA | GRCh37 |
| NC_000007.12:g.86891287_86891288insTCA | NCBI36 |
| NG_007118.1:g.61397_61398insTGA | |
| NG_007118.2:g.61397_61398insTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.2081_2082insTGA | ENSP00000352135.3:p.Pro694_Val695insGlu | |
| ENST00000643670.1:c.2097_2098insTGA | ENSP00000496629.1:n.2097_2098insTGA | |
| ENST00000649586.2:c.2081_2082insTGA MANE Select | ENSP00000496956.2:p.Pro694_Val695insGlu | |
| ENST00000265723.8:c.2081_2082insTGA | ENSP00000265723.4:p.Pro694_Val695insGlu | |
| ENST00000358400.7:c.2081_2082insTGA | ENSP00000351172.3:p.Pro694_Val695insGlu | |
| ENST00000359206.7:c.2081_2082insTGA | ENSP00000352135.3:p.Pro694_Val695insGlu | |
| ENST00000453593.5:c.2081_2082insTGA | ENSP00000392983.1:p.Pro694_Val695insGlu | |
| ENST00000469770.1:n.285_286insTGA | ||
| NM_000443.3:c.2081_2082insTGA | NP_000434.1:p.Pro694_Val695insGlu | |
| NM_018849.2:c.2081_2082insTGA | NP_061337.1:p.Pro694_Val695insGlu | |
| NM_018850.2:c.2081_2082insTGA | NP_061338.1:p.Pro694_Val695insGlu | |
| XM_011516308.1:c.2081_2082insTGA | XP_011514610.1:p.Pro694_Val695insGlu | |
| XM_011516309.1:c.2081_2082insTGA | XP_011514611.1:p.Pro694_Val695insGlu | |
| XM_011516310.1:c.2081_2082insTGA | XP_011514612.1:p.Pro694_Val695insGlu | |
| XM_011516311.1:c.2081_2082insTGA | XP_011514613.1:p.Pro694_Val695insGlu | |
| XM_011516312.1:c.2081_2082insTGA | XP_011514614.1:p.Pro694_Val695insGlu | |
| XM_011516313.1:c.2081_2082insTGA | XP_011514615.1:p.Pro694_Val695insGlu | |
| XM_011516314.1:c.2102_2103insTGA | XP_011514616.1:p.Pro701_Val702insGlu | |
| XM_011516315.1:c.1421_1422insTGA | XP_011514617.1:p.Pro474_Val475insGlu | |
| XR_927478.1:n.2177_2178insTGA | ||
| XM_011516308.3:c.2351_2352insTGA | XP_011514610.3:p.Pro784_Val785insGlu | |
| XM_011516309.3:c.2351_2352insTGA | XP_011514611.3:p.Pro784_Val785insGlu | |
| XM_011516310.3:c.2351_2352insTGA | XP_011514612.3:p.Pro784_Val785insGlu | |
| XM_011516311.3:c.2351_2352insTGA | XP_011514613.3:p.Pro784_Val785insGlu | |
| XM_011516312.3:c.2351_2352insTGA | XP_011514614.3:p.Pro784_Val785insGlu | |
| XM_011516313.3:c.2351_2352insTGA | XP_011514615.2:p.Pro784_Val785insGlu | |
| XM_011516315.3:c.1421_1422insTGA | XP_011514617.2:p.Pro474_Val475insGlu | |
| XM_017012323.2:c.2081_2082insTGA | XP_016867812.1:p.Pro694_Val695insGlu | |
| XR_001744809.2:n.2852_2853insTGA | ||
| XR_001744810.2:n.2847_2848insTGA | ||
| NM_000443.4:c.2081_2082insTGA MANE Select | NP_000434.1:p.Pro694_Val695insGlu | |
| NM_018849.3:c.2081_2082insTGA | NP_061337.1:p.Pro694_Val695insGlu | |
| NM_018850.3:c.2081_2082insTGA | NP_061338.1:p.Pro694_Val695insGlu |