Linked Data
ClinVar Variation Id:
287799
ClinVar RCV Id:
RCV000394729
dbSNP Id:
rs886043734
MyVariant Identifiers:
chr7:g.87046684_87046685delinsAT (hg19)
chr7:g.87417368_87417369delinsAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87417368_87417369delinsAT , CM000669.2:g.87417368_87417369delinsAT | GRCh38 |
| NC_000007.13:g.87046684_87046685delinsAT , CM000669.1:g.87046684_87046685delinsAT | GRCh37 |
| NC_000007.12:g.86884620_86884621delinsAT | NCBI36 |
| NG_007118.1:g.68064_68065delinsAT | |
| NG_007118.2:g.68064_68065delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359206.8:c.2625_2626delinsAT | ENSP00000352135.3:p.Met875IlefsTer2 | |
| ENST00000649586.2:c.2625_2626delinsAT MANE Select | ENSP00000496956.2:p.Met875IlefsTer2 | |
| ENST00000265723.8:c.2625_2626delinsAT | ENSP00000265723.4:p.Met875IlefsTer2 | |
| ENST00000358400.7:c.2625_2626delinsAT | ENSP00000351172.3:p.Met875IlefsTer2 | |
| ENST00000359206.7:c.2625_2626delinsAT | ENSP00000352135.3:p.Met875IlefsTer2 | |
| ENST00000453593.5:c.2625_2626delinsAT | ENSP00000392983.1:p.Met875IlefsTer2 | |
| NM_000443.3:c.2625_2626delinsAT | NP_000434.1:p.Met875IlefsTer2 | |
| NM_018849.2:c.2625_2626delinsAT | NP_061337.1:p.Met875IlefsTer2 | |
| NM_018850.2:c.2625_2626delinsAT | NP_061338.1:p.Met875IlefsTer2 | |
| XM_011516308.1:c.2625_2626delinsAT | XP_011514610.1:p.Met875IlefsTer2 | |
| XM_011516309.1:c.2625_2626delinsAT | XP_011514611.1:p.Met875IlefsTer2 | |
| XM_011516310.1:c.2520_2521delinsAT | XP_011514612.1:p.Met840IlefsTer2 | |
| XM_011516311.1:c.2625_2626delinsAT | XP_011514613.1:p.Met875IlefsTer2 | |
| XM_011516312.1:c.2625_2626delinsAT | XP_011514614.1:p.Met875IlefsTer2 | |
| XM_011516313.1:c.2625_2626delinsAT | XP_011514615.1:p.Met875IlefsTer2 | |
| XM_011516314.1:c.2646_2647delinsAT | XP_011514616.1:p.Met882IlefsTer2 | |
| XM_011516315.1:c.1965_1966delinsAT | XP_011514617.1:p.Met655IlefsTer2 | |
| XR_927478.1:n.2721_2722delinsAT | ||
| XM_011516308.3:c.2895_2896delinsAT | XP_011514610.3:p.Met965IlefsTer2 | |
| XM_011516309.3:c.2895_2896delinsAT | XP_011514611.3:p.Met965IlefsTer2 | |
| XM_011516310.3:c.2790_2791delinsAT | XP_011514612.3:p.Met930IlefsTer2 | |
| XM_011516311.3:c.2895_2896delinsAT | XP_011514613.3:p.Met965IlefsTer2 | |
| XM_011516312.3:c.2895_2896delinsAT | XP_011514614.3:p.Met965IlefsTer2 | |
| XM_011516313.3:c.2895_2896delinsAT | XP_011514615.2:p.Met965IlefsTer2 | |
| XM_011516315.3:c.1965_1966delinsAT | XP_011514617.2:p.Met655IlefsTer2 | |
| XM_017012323.2:c.2625_2626delinsAT | XP_016867812.1:p.Met875IlefsTer2 | |
| XR_001744809.2:n.3396_3397delinsAT | ||
| NM_000443.4:c.2625_2626delinsAT MANE Select | NP_000434.1:p.Met875IlefsTer2 | |
| NM_018849.3:c.2625_2626delinsAT | NP_061337.1:p.Met875IlefsTer2 | |
| NM_018850.3:c.2625_2626delinsAT | NP_061338.1:p.Met875IlefsTer2 |